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author | youngkim |
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date | Thu, 24 Mar 2016 17:12:52 -0400 |
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/* vcf.c -- VCF/BCF API functions. Copyright (C) 2012, 2013 Broad Institute. Copyright (C) 2012-2014 Genome Research Ltd. Portions copyright (C) 2014 Intel Corporation. Author: Heng Li <lh3@sanger.ac.uk> Permission is hereby granted, free of charge, to any person obtaining a copy of this software and associated documentation files (the "Software"), to deal in the Software without restriction, including without limitation the rights to use, copy, modify, merge, publish, distribute, sublicense, and/or sell copies of the Software, and to permit persons to whom the Software is furnished to do so, subject to the following conditions: The above copyright notice and this permission notice shall be included in all copies or substantial portions of the Software. THE SOFTWARE IS PROVIDED "AS IS", WITHOUT WARRANTY OF ANY KIND, EXPRESS OR IMPLIED, INCLUDING BUT NOT LIMITED TO THE WARRANTIES OF MERCHANTABILITY, FITNESS FOR A PARTICULAR PURPOSE AND NONINFRINGEMENT. IN NO EVENT SHALL THE AUTHORS OR COPYRIGHT HOLDERS BE LIABLE FOR ANY CLAIM, DAMAGES OR OTHER LIABILITY, WHETHER IN AN ACTION OF CONTRACT, TORT OR OTHERWISE, ARISING FROM, OUT OF OR IN CONNECTION WITH THE SOFTWARE OR THE USE OR OTHER DEALINGS IN THE SOFTWARE. */ #include <zlib.h> #include <stdio.h> #include <ctype.h> #include <assert.h> #include <string.h> #include <stdlib.h> #include <limits.h> #include "htslib/kstring.h" #include "htslib/bgzf.h" #include "htslib/vcf.h" #include "htslib/tbx.h" #include "htslib/hfile.h" #include "htslib/khash_str2int.h" #include "htslib/khash.h" KHASH_MAP_INIT_STR(vdict, bcf_idinfo_t) typedef khash_t(vdict) vdict_t; #include "htslib/kseq.h" KSTREAM_DECLARE(gzFile, gzread) uint32_t bcf_float_missing = 0x7F800001; uint32_t bcf_float_vector_end = 0x7F800002; uint8_t bcf_type_shift[] = { 0, 0, 1, 2, 0, 2, 0, 0, 0, 0, 0, 0, 0, 0, 0, 0 }; static bcf_idinfo_t bcf_idinfo_def = { .info = { 15, 15, 15 }, .hrec = { NULL, NULL, NULL}, .id = -1 }; /************************* *** VCF header parser *** *************************/ int bcf_hdr_sync(bcf_hdr_t *h); int bcf_hdr_add_sample(bcf_hdr_t *h, const char *s) { if ( !s ) return 0; const char *ss = s; while ( !*ss && isspace(*ss) ) ss++; if ( !*ss ) { fprintf(stderr,"[E::%s] Empty sample name: trailing spaces/tabs in the header line?\n", __func__); abort(); } vdict_t *d = (vdict_t*)h->dict[BCF_DT_SAMPLE]; int ret; char *sdup = strdup(s); int k = kh_put(vdict, d, sdup, &ret); if (ret) { // absent kh_val(d, k) = bcf_idinfo_def; kh_val(d, k).id = kh_size(d) - 1; } else { if (hts_verbose >= 2) { fprintf(stderr, "[E::%s] Duplicated sample name '%s'\n", __func__, s); abort(); } free(sdup); return -1; } int n = kh_size(d); h->samples = (char**) realloc(h->samples,sizeof(char*)*n); h->samples[n-1] = sdup; h->dirty = 1; return 0; } int bcf_hdr_parse_sample_line(bcf_hdr_t *h, const char *str) { int ret = 0; int i = 0; const char *p, *q; // add samples for (p = q = str;; ++q) { if (*q != '\t' && *q != 0 && *q != '\n') continue; if (++i > 9) { char *s = (char*)malloc(q - p + 1); strncpy(s, p, q - p); s[q - p] = 0; if ( bcf_hdr_add_sample(h,s) < 0 ) ret = -1; free(s); } if (*q == 0 || *q == '\n') break; p = q + 1; } bcf_hdr_add_sample(h,NULL); return ret; } int bcf_hdr_sync(bcf_hdr_t *h) { int i; for (i = 0; i < 3; i++) { vdict_t *d = (vdict_t*)h->dict[i]; khint_t k; // find out the largest id, there may be holes because of IDX int max_id = -1; for (k=kh_begin(d); k<kh_end(d); k++) { if (!kh_exist(d,k)) continue; if ( max_id < kh_val(d,k).id ) max_id = kh_val(d,k).id; } if ( max_id >= h->n[i] ) { h->id[i] = (bcf_idpair_t*)realloc(h->id[i], (max_id+1)*sizeof(bcf_idpair_t)); for (k=h->n[i]; k<=max_id; k++) { h->id[i][k].key = NULL; h->id[i][k].val = NULL; } h->n[i] = max_id+1; } for (k=kh_begin(d); k<kh_end(d); k++) { if (!kh_exist(d,k)) continue; h->id[i][kh_val(d,k).id].key = kh_key(d,k); h->id[i][kh_val(d,k).id].val = &kh_val(d,k); } } h->dirty = 0; return 0; } void bcf_hrec_destroy(bcf_hrec_t *hrec) { free(hrec->key); if ( hrec->value ) free(hrec->value); int i; for (i=0; i<hrec->nkeys; i++) { free(hrec->keys[i]); free(hrec->vals[i]); } free(hrec->keys); free(hrec->vals); free(hrec); } // Copies all fields except IDX. bcf_hrec_t *bcf_hrec_dup(bcf_hrec_t *hrec) { bcf_hrec_t *out = (bcf_hrec_t*) calloc(1,sizeof(bcf_hrec_t)); out->type = hrec->type; if ( hrec->key ) out->key = strdup(hrec->key); if ( hrec->value ) out->value = strdup(hrec->value); out->nkeys = hrec->nkeys; out->keys = (char**) malloc(sizeof(char*)*hrec->nkeys); out->vals = (char**) malloc(sizeof(char*)*hrec->nkeys); int i, j = 0; for (i=0; i<hrec->nkeys; i++) { if ( hrec->keys[i] && !strcmp("IDX",hrec->keys[i]) ) continue; if ( hrec->keys[i] ) out->keys[j] = strdup(hrec->keys[i]); if ( hrec->vals[i] ) out->vals[j] = strdup(hrec->vals[i]); j++; } if ( i!=j ) out->nkeys -= i-j; // IDX was omitted return out; } void bcf_hrec_debug(FILE *fp, bcf_hrec_t *hrec) { fprintf(fp, "key=[%s] value=[%s]", hrec->key, hrec->value?hrec->value:""); int i; for (i=0; i<hrec->nkeys; i++) fprintf(fp, "\t[%s]=[%s]", hrec->keys[i],hrec->vals[i]); fprintf(fp, "\n"); } void bcf_header_debug(bcf_hdr_t *hdr) { int i, j; for (i=0; i<hdr->nhrec; i++) { if ( !hdr->hrec[i]->value ) { fprintf(stderr, "##%s=<", hdr->hrec[i]->key); fprintf(stderr,"%s=%s", hdr->hrec[i]->keys[0], hdr->hrec[i]->vals[0]); for (j=1; j<hdr->hrec[i]->nkeys; j++) fprintf(stderr,",%s=%s", hdr->hrec[i]->keys[j], hdr->hrec[i]->vals[j]); fprintf(stderr,">\n"); } else fprintf(stderr,"##%s=%s\n", hdr->hrec[i]->key,hdr->hrec[i]->value); } } void bcf_hrec_add_key(bcf_hrec_t *hrec, const char *str, int len) { int n = ++hrec->nkeys; hrec->keys = (char**) realloc(hrec->keys, sizeof(char*)*n); hrec->vals = (char**) realloc(hrec->vals, sizeof(char*)*n); assert( len ); hrec->keys[n-1] = (char*) malloc((len+1)*sizeof(char)); memcpy(hrec->keys[n-1],str,len); hrec->keys[n-1][len] = 0; hrec->vals[n-1] = NULL; } void bcf_hrec_set_val(bcf_hrec_t *hrec, int i, const char *str, int len, int is_quoted) { if ( !str ) { hrec->vals[i] = NULL; return; } if ( hrec->vals[i] ) free(hrec->vals[i]); if ( is_quoted ) { hrec->vals[i] = (char*) malloc((len+3)*sizeof(char)); hrec->vals[i][0] = '"'; memcpy(&hrec->vals[i][1],str,len); hrec->vals[i][len+1] = '"'; hrec->vals[i][len+2] = 0; } else { hrec->vals[i] = (char*) malloc((len+1)*sizeof(char)); memcpy(hrec->vals[i],str,len); hrec->vals[i][len] = 0; } } void hrec_add_idx(bcf_hrec_t *hrec, int idx) { int n = ++hrec->nkeys; hrec->keys = (char**) realloc(hrec->keys, sizeof(char*)*n); hrec->vals = (char**) realloc(hrec->vals, sizeof(char*)*n); hrec->keys[n-1] = strdup("IDX"); kstring_t str = {0,0,0}; kputw(idx, &str); hrec->vals[n-1] = str.s; } int bcf_hrec_find_key(bcf_hrec_t *hrec, const char *key) { int i; for (i=0; i<hrec->nkeys; i++) if ( !strcasecmp(key,hrec->keys[i]) ) return i; return -1; } static inline int is_escaped(const char *min, const char *str) { int n = 0; while ( --str>=min && *str=='\\' ) n++; return n%2; } bcf_hrec_t *bcf_hdr_parse_line(const bcf_hdr_t *h, const char *line, int *len) { const char *p = line; if (p[0] != '#' || p[1] != '#') { *len = 0; return NULL; } p += 2; const char *q = p; while ( *q && *q!='=' ) q++; int n = q-p; if ( *q!='=' || !n ) { *len = q-line+1; return NULL; } // wrong format bcf_hrec_t *hrec = (bcf_hrec_t*) calloc(1,sizeof(bcf_hrec_t)); hrec->key = (char*) malloc(sizeof(char)*(n+1)); memcpy(hrec->key,p,n); hrec->key[n] = 0; p = ++q; if ( *p!='<' ) // generic field, e.g. ##samtoolsVersion=0.1.18-r579 { while ( *q && *q!='\n' ) q++; hrec->value = (char*) malloc((q-p+1)*sizeof(char)); memcpy(hrec->value, p, q-p); hrec->value[q-p] = 0; *len = q-line+1; return hrec; } // structured line, e.g. ##INFO=<ID=PV1,Number=1,Type=Float,Description="P-value for baseQ bias"> int nopen = 1; while ( *q && *q!='\n' && nopen ) { p = ++q; while ( *q && isalnum(*q) ) q++; n = q-p; if ( *q!='=' || !n ) { // wrong format while ( *q && *q!='\n' ) q++; kstring_t tmp = {0,0,0}; kputsn(line,q-line,&tmp); fprintf(stderr,"Could not parse the header line: \"%s\"\n", tmp.s); free(tmp.s); *len = q-line+1; bcf_hrec_destroy(hrec); return NULL; } bcf_hrec_add_key(hrec, p, q-p); p = ++q; int quoted = *p=='"' ? 1 : 0; if ( quoted ) p++, q++; while (1) { if ( !*q ) break; if ( quoted ) { if ( *q=='"' && !is_escaped(p,q) ) break; } else { if ( *q=='<' ) nopen++; if ( *q=='>' ) nopen--; if ( !nopen ) break; if ( *q==',' && nopen==1 ) break; } q++; } bcf_hrec_set_val(hrec, hrec->nkeys-1, p, q-p, quoted); if ( quoted ) q++; if ( *q=='>' ) { nopen--; q++; } } *len = q-line+1; return hrec; } // returns: 1 when hdr needs to be synced, 0 otherwise int bcf_hdr_register_hrec(bcf_hdr_t *hdr, bcf_hrec_t *hrec) { // contig int i,j,k, ret; char *str; if ( !strcmp(hrec->key, "contig") ) { hrec->type = BCF_HL_CTG; // Get the contig ID ($str) and length ($j) i = bcf_hrec_find_key(hrec,"length"); if ( i<0 ) j = 0; else if ( sscanf(hrec->vals[i],"%d",&j)!=1 ) return 0; i = bcf_hrec_find_key(hrec,"ID"); if ( i<0 ) return 0; str = strdup(hrec->vals[i]); // Register in the dictionary vdict_t *d = (vdict_t*)hdr->dict[BCF_DT_CTG]; k = kh_put(vdict, d, str, &ret); if ( !ret ) { free(str); return 0; } // already present int idx = bcf_hrec_find_key(hrec,"IDX"); if ( idx!=-1 ) { char *tmp = hrec->vals[idx]; idx = strtol(hrec->vals[idx], &tmp, 10); if ( *tmp ) { fprintf(stderr,"[%s:%d %s] Error parsing the IDX tag, skipping.\n", __FILE__,__LINE__,__FUNCTION__); return 0; } } else { idx = kh_size(d) - 1; hrec_add_idx(hrec, idx); } kh_val(d, k) = bcf_idinfo_def; kh_val(d, k).id = idx; kh_val(d, k).info[0] = j; kh_val(d, k).hrec[0] = hrec; return 1; } if ( !strcmp(hrec->key, "INFO") ) hrec->type = BCF_HL_INFO; else if ( !strcmp(hrec->key, "FILTER") ) hrec->type = BCF_HL_FLT; else if ( !strcmp(hrec->key, "FORMAT") ) hrec->type = BCF_HL_FMT; else if ( hrec->nkeys>0 ) { hrec->type = BCF_HL_STR; return 1; } else return 0; // INFO/FILTER/FORMAT char *id = NULL; int type = -1, num = -1, var = -1, idx = -1; for (i=0; i<hrec->nkeys; i++) { if ( !strcmp(hrec->keys[i], "ID") ) id = hrec->vals[i]; else if ( !strcmp(hrec->keys[i], "IDX") ) { char *tmp = hrec->vals[i]; idx = strtol(hrec->vals[i], &tmp, 10); if ( *tmp ) { fprintf(stderr,"[%s:%d %s] Error parsing the IDX tag, skipping.\n", __FILE__,__LINE__,__FUNCTION__); return 0; } } else if ( !strcmp(hrec->keys[i], "Type") ) { if ( !strcmp(hrec->vals[i], "Integer") ) type = BCF_HT_INT; else if ( !strcmp(hrec->vals[i], "Float") ) type = BCF_HT_REAL; else if ( !strcmp(hrec->vals[i], "String") ) type = BCF_HT_STR; else if ( !strcmp(hrec->vals[i], "Character") ) type = BCF_HT_STR; else if ( !strcmp(hrec->vals[i], "Flag") ) type = BCF_HT_FLAG; else { fprintf(stderr, "[E::%s] The type \"%s\" not supported, assuming \"String\"\n", __func__, hrec->vals[i]); type = BCF_HT_STR; } } else if ( !strcmp(hrec->keys[i], "Number") ) { if ( !strcmp(hrec->vals[i],"A") ) var = BCF_VL_A; else if ( !strcmp(hrec->vals[i],"R") ) var = BCF_VL_R; else if ( !strcmp(hrec->vals[i],"G") ) var = BCF_VL_G; else if ( !strcmp(hrec->vals[i],".") ) var = BCF_VL_VAR; else { sscanf(hrec->vals[i],"%d",&num); var = BCF_VL_FIXED; } if (var != BCF_VL_FIXED) num = 0xfffff; } } uint32_t info = (uint32_t)num<<12 | var<<8 | type<<4 | hrec->type; if ( !id ) return 0; str = strdup(id); vdict_t *d = (vdict_t*)hdr->dict[BCF_DT_ID]; k = kh_put(vdict, d, str, &ret); if ( !ret ) { // already present free(str); if ( kh_val(d, k).hrec[info&0xf] ) return 0; kh_val(d, k).info[info&0xf] = info; kh_val(d, k).hrec[info&0xf] = hrec; if ( idx==-1 ) hrec_add_idx(hrec, kh_val(d, k).id); return 1; } kh_val(d, k) = bcf_idinfo_def; kh_val(d, k).info[info&0xf] = info; kh_val(d, k).hrec[info&0xf] = hrec; kh_val(d, k).id = idx==-1 ? kh_size(d) - 1 : idx; if ( idx==-1 ) hrec_add_idx(hrec, kh_val(d, k).id); return 1; } int bcf_hdr_add_hrec(bcf_hdr_t *hdr, bcf_hrec_t *hrec) { if ( !hrec ) return 0; hrec->type = BCF_HL_GEN; if ( !bcf_hdr_register_hrec(hdr,hrec) ) { // If one of the hashed field, then it is already present if ( hrec->type != BCF_HL_GEN ) { bcf_hrec_destroy(hrec); return 0; } // Is one of the generic fields and already present? int i; for (i=0; i<hdr->nhrec; i++) { if ( hdr->hrec[i]->type!=BCF_HL_GEN ) continue; if ( !strcmp(hdr->hrec[i]->key,hrec->key) && !strcmp(hrec->key,"fileformat") ) break; if ( !strcmp(hdr->hrec[i]->key,hrec->key) && !strcmp(hdr->hrec[i]->value,hrec->value) ) break; } if ( i<hdr->nhrec ) { bcf_hrec_destroy(hrec); return 0; } } // New record, needs to be added int n = ++hdr->nhrec; hdr->hrec = (bcf_hrec_t**) realloc(hdr->hrec, n*sizeof(bcf_hrec_t*)); hdr->hrec[n-1] = hrec; hdr->dirty = 1; return hrec->type==BCF_HL_GEN ? 0 : 1; } /* * Note that while querying of FLT,INFO,FMT,CTG lines is fast (the keys are hashed), * the STR,GEN lines are searched for linearly in a linked list of all header lines. * This may become a problem for VCFs with huge headers, we might need to build a * dictionary for these lines as well. */ bcf_hrec_t *bcf_hdr_get_hrec(const bcf_hdr_t *hdr, int type, const char *key, const char *value, const char *str_class) { int i; if ( type==BCF_HL_GEN ) { for (i=0; i<hdr->nhrec; i++) { if ( hdr->hrec[i]->type!=type ) continue; if ( strcmp(hdr->hrec[i]->key,key) ) continue; if ( !value || !strcmp(hdr->hrec[i]->value,value) ) return hdr->hrec[i]; } return NULL; } else if ( type==BCF_HL_STR ) { for (i=0; i<hdr->nhrec; i++) { if ( hdr->hrec[i]->type!=type ) continue; if ( strcmp(hdr->hrec[i]->key,str_class) ) continue; int j = bcf_hrec_find_key(hdr->hrec[i],key); if ( j>=0 && !strcmp(hdr->hrec[i]->vals[j],value) ) return hdr->hrec[i]; } return NULL; } vdict_t *d = type==BCF_HL_CTG ? (vdict_t*)hdr->dict[BCF_DT_CTG] : (vdict_t*)hdr->dict[BCF_DT_ID]; khint_t k = kh_get(vdict, d, value); if ( k == kh_end(d) ) return NULL; return kh_val(d, k).hrec[type==BCF_HL_CTG?0:type]; } void bcf_hdr_check_sanity(bcf_hdr_t *hdr) { static int PL_warned = 0, GL_warned = 0; if ( !PL_warned ) { int id = bcf_hdr_id2int(hdr, BCF_DT_ID, "PL"); if ( bcf_hdr_idinfo_exists(hdr,BCF_HL_FMT,id) && bcf_hdr_id2length(hdr,BCF_HL_FMT,id)!=BCF_VL_G ) { fprintf(stderr,"[W::%s] PL should be declared as Number=G\n", __func__); PL_warned = 1; } } if ( !GL_warned ) { int id = bcf_hdr_id2int(hdr, BCF_HL_FMT, "GL"); if ( bcf_hdr_idinfo_exists(hdr,BCF_HL_FMT,id) && bcf_hdr_id2length(hdr,BCF_HL_FMT,id)!=BCF_VL_G ) { fprintf(stderr,"[W::%s] GL should be declared as Number=G\n", __func__); PL_warned = 1; } } } int bcf_hdr_parse(bcf_hdr_t *hdr, char *htxt) { int len, needs_sync = 0; char *p = htxt; // Check sanity: "fileformat" string must come as first bcf_hrec_t *hrec = bcf_hdr_parse_line(hdr,p,&len); if ( !hrec || !hrec->key || strcasecmp(hrec->key,"fileformat") ) fprintf(stderr, "[W::%s] The first line should be ##fileformat; is the VCF/BCF header broken?\n", __func__); needs_sync += bcf_hdr_add_hrec(hdr, hrec); // The filter PASS must appear first in the dictionary hrec = bcf_hdr_parse_line(hdr,"##FILTER=<ID=PASS,Description=\"All filters passed\">",&len); needs_sync += bcf_hdr_add_hrec(hdr, hrec); // Parse the whole header while ( (hrec=bcf_hdr_parse_line(hdr,p,&len)) ) { needs_sync += bcf_hdr_add_hrec(hdr, hrec); p += len; } int ret = bcf_hdr_parse_sample_line(hdr,p); bcf_hdr_sync(hdr); bcf_hdr_check_sanity(hdr); return ret; } int bcf_hdr_append(bcf_hdr_t *hdr, const char *line) { int len; bcf_hrec_t *hrec = bcf_hdr_parse_line(hdr, (char*) line, &len); if ( !hrec ) return -1; bcf_hdr_add_hrec(hdr, hrec); return 0; } void bcf_hdr_remove(bcf_hdr_t *hdr, int type, const char *key) { int i; bcf_hrec_t *hrec; while (1) { if ( type==BCF_HL_FLT || type==BCF_HL_INFO || type==BCF_HL_FMT || type== BCF_HL_CTG ) { hrec = bcf_hdr_get_hrec(hdr, type, "ID", key, NULL); if ( !hrec ) return; for (i=0; i<hdr->nhrec; i++) if ( hdr->hrec[i]==hrec ) break; assert( i<hdr->nhrec ); vdict_t *d = type==BCF_HL_CTG ? (vdict_t*)hdr->dict[BCF_DT_CTG] : (vdict_t*)hdr->dict[BCF_DT_ID]; khint_t k = kh_get(vdict, d, key); kh_val(d, k).hrec[type==BCF_HL_CTG?0:type] = NULL; } else { for (i=0; i<hdr->nhrec; i++) { if ( hdr->hrec[i]->type!=type ) continue; if ( type==BCF_HL_GEN ) { if ( !strcmp(hdr->hrec[i]->key,key) ) break; } else { // not all structured lines have ID, we could be more sophisticated as in bcf_hdr_get_hrec() int j = bcf_hrec_find_key(hdr->hrec[i], "ID"); if ( j>=0 && !strcmp(hdr->hrec[i]->vals[j],key) ) break; } } if ( i==hdr->nhrec ) return; hrec = hdr->hrec[i]; } hdr->nhrec--; if ( i < hdr->nhrec ) memmove(&hdr->hrec[i],&hdr->hrec[i+1],(hdr->nhrec-i)*sizeof(bcf_hrec_t*)); bcf_hrec_destroy(hrec); hdr->dirty = 1; } } int bcf_hdr_printf(bcf_hdr_t *hdr, const char *fmt, ...) { va_list ap; va_start(ap, fmt); int n = vsnprintf(NULL, 0, fmt, ap) + 2; va_end(ap); char *line = (char*)malloc(n); va_start(ap, fmt); vsnprintf(line, n, fmt, ap); va_end(ap); int ret = bcf_hdr_append(hdr, line); free(line); return ret; } /********************** *** BCF header I/O *** **********************/ const char *bcf_hdr_get_version(const bcf_hdr_t *hdr) { bcf_hrec_t *hrec = bcf_hdr_get_hrec(hdr, BCF_HL_GEN, "fileformat", NULL, NULL); if ( !hrec ) { fprintf(stderr,"No version string found, assuming VCFv4.2\n"); return "VCFv4.2"; } return hrec->value; } void bcf_hdr_set_version(bcf_hdr_t *hdr, const char *version) { bcf_hrec_t *hrec = bcf_hdr_get_hrec(hdr, BCF_HL_GEN, "fileformat", NULL, NULL); if ( !hrec ) { int len; kstring_t str = {0,0,0}; ksprintf(&str,"##fileformat=%s", version); hrec = bcf_hdr_parse_line(hdr, str.s, &len); free(str.s); } else { free(hrec->value); hrec->value = strdup(version); } hdr->dirty = 1; } bcf_hdr_t *bcf_hdr_init(const char *mode) { int i; bcf_hdr_t *h; h = (bcf_hdr_t*)calloc(1, sizeof(bcf_hdr_t)); for (i = 0; i < 3; ++i) h->dict[i] = kh_init(vdict); if ( strchr(mode,'w') ) { bcf_hdr_append(h, "##fileformat=VCFv4.2"); // The filter PASS must appear first in the dictionary bcf_hdr_append(h, "##FILTER=<ID=PASS,Description=\"All filters passed\">"); } return h; } void bcf_hdr_destroy(bcf_hdr_t *h) { int i; khint_t k; for (i = 0; i < 3; ++i) { vdict_t *d = (vdict_t*)h->dict[i]; if (d == 0) continue; for (k = kh_begin(d); k != kh_end(d); ++k) if (kh_exist(d, k)) free((char*)kh_key(d, k)); kh_destroy(vdict, d); free(h->id[i]); } for (i=0; i<h->nhrec; i++) bcf_hrec_destroy(h->hrec[i]); if (h->nhrec) free(h->hrec); if (h->samples) free(h->samples); free(h->keep_samples); free(h->transl[0]); free(h->transl[1]); free(h->mem.s); free(h); } bcf_hdr_t *bcf_hdr_read(htsFile *hfp) { if (hfp->format.format == vcf) return vcf_hdr_read(hfp); BGZF *fp = hfp->fp.bgzf; uint8_t magic[5]; bcf_hdr_t *h; h = bcf_hdr_init("r"); if ( bgzf_read(fp, magic, 5)<0 ) { fprintf(stderr,"[%s:%d %s] Failed to read the header (reading BCF in text mode?)\n", __FILE__,__LINE__,__FUNCTION__); return NULL; } if (strncmp((char*)magic, "BCF\2\2", 5) != 0) { if (!strncmp((char*)magic, "BCF", 3)) fprintf(stderr,"[%s:%d %s] invalid BCF2 magic string: only BCFv2.2 is supported.\n", __FILE__,__LINE__,__FUNCTION__); else if (hts_verbose >= 2) fprintf(stderr, "[E::%s] invalid BCF2 magic string\n", __func__); bcf_hdr_destroy(h); return 0; } int hlen; char *htxt; bgzf_read(fp, &hlen, 4); htxt = (char*)malloc(hlen); bgzf_read(fp, htxt, hlen); bcf_hdr_parse(h, htxt); free(htxt); return h; } int bcf_hdr_write(htsFile *hfp, bcf_hdr_t *h) { if ( h->dirty ) bcf_hdr_sync(h); if (hfp->format.format == vcf || hfp->format.format == text_format) return vcf_hdr_write(hfp, h); int hlen; char *htxt = bcf_hdr_fmt_text(h, 1, &hlen); hlen++; // include the \0 byte BGZF *fp = hfp->fp.bgzf; if ( bgzf_write(fp, "BCF\2\2", 5) !=5 ) return -1; if ( bgzf_write(fp, &hlen, 4) !=4 ) return -1; if ( bgzf_write(fp, htxt, hlen) != hlen ) return -1; free(htxt); return 0; } /******************** *** BCF site I/O *** ********************/ bcf1_t *bcf_init1() { bcf1_t *v; v = (bcf1_t*)calloc(1, sizeof(bcf1_t)); return v; } void bcf_clear(bcf1_t *v) { int i; for (i=0; i<v->d.m_info; i++) { if ( v->d.info[i].vptr_free ) { free(v->d.info[i].vptr - v->d.info[i].vptr_off); v->d.info[i].vptr_free = 0; } } for (i=0; i<v->d.m_fmt; i++) { if ( v->d.fmt[i].p_free ) { free(v->d.fmt[i].p - v->d.fmt[i].p_off); v->d.fmt[i].p_free = 0; } } v->rid = v->pos = v->rlen = v->unpacked = 0; bcf_float_set_missing(v->qual); v->n_info = v->n_allele = v->n_fmt = v->n_sample = 0; v->shared.l = v->indiv.l = 0; v->d.var_type = -1; v->d.shared_dirty = 0; v->d.indiv_dirty = 0; v->d.n_flt = 0; v->errcode = 0; if (v->d.m_als) v->d.als[0] = 0; if (v->d.m_id) v->d.id[0] = 0; } void bcf_empty1(bcf1_t *v) { bcf_clear1(v); free(v->d.id); free(v->d.als); free(v->d.allele); free(v->d.flt); free(v->d.info); free(v->d.fmt); if (v->d.var ) free(v->d.var); free(v->shared.s); free(v->indiv.s); } void bcf_destroy1(bcf1_t *v) { bcf_empty1(v); free(v); } static inline int bcf_read1_core(BGZF *fp, bcf1_t *v) { uint32_t x[8]; int ret; if ((ret = bgzf_read(fp, x, 32)) != 32) { if (ret == 0) return -1; return -2; } bcf_clear1(v); x[0] -= 24; // to exclude six 32-bit integers ks_resize(&v->shared, x[0]); ks_resize(&v->indiv, x[1]); memcpy(v, x + 2, 16); v->n_allele = x[6]>>16; v->n_info = x[6]&0xffff; v->n_fmt = x[7]>>24; v->n_sample = x[7]&0xffffff; v->shared.l = x[0], v->indiv.l = x[1]; // silent fix of broken BCFs produced by earlier versions of bcf_subset, prior to and including bd6ed8b4 if ( (!v->indiv.l || !v->n_sample) && v->n_fmt ) v->n_fmt = 0; bgzf_read(fp, v->shared.s, v->shared.l); bgzf_read(fp, v->indiv.s, v->indiv.l); return 0; } #define bit_array_size(n) ((n)/8+1) #define bit_array_set(a,i) ((a)[(i)/8] |= 1 << ((i)%8)) #define bit_array_clear(a,i) ((a)[(i)/8] &= ~(1 << ((i)%8))) #define bit_array_test(a,i) ((a)[(i)/8] & (1 << ((i)%8))) static inline uint8_t *bcf_unpack_fmt_core1(uint8_t *ptr, int n_sample, bcf_fmt_t *fmt); int bcf_subset_format(const bcf_hdr_t *hdr, bcf1_t *rec) { if ( !hdr->keep_samples ) return 0; if ( !bcf_hdr_nsamples(hdr) ) { rec->indiv.l = rec->n_sample = 0; return 0; } int i, j; uint8_t *ptr = (uint8_t*)rec->indiv.s, *dst = NULL, *src; bcf_dec_t *dec = &rec->d; hts_expand(bcf_fmt_t, rec->n_fmt, dec->m_fmt, dec->fmt); for (i=0; i<dec->m_fmt; ++i) dec->fmt[i].p_free = 0; for (i=0; i<rec->n_fmt; i++) { ptr = bcf_unpack_fmt_core1(ptr, rec->n_sample, &dec->fmt[i]); src = dec->fmt[i].p - dec->fmt[i].size; if ( dst ) { memmove(dec->fmt[i-1].p + dec->fmt[i-1].p_len, dec->fmt[i].p - dec->fmt[i].p_off, dec->fmt[i].p_off); dec->fmt[i].p = dec->fmt[i-1].p + dec->fmt[i-1].p_len + dec->fmt[i].p_off; } dst = dec->fmt[i].p; for (j=0; j<hdr->nsamples_ori; j++) { src += dec->fmt[i].size; if ( !bit_array_test(hdr->keep_samples,j) ) continue; memmove(dst, src, dec->fmt[i].size); dst += dec->fmt[i].size; } rec->indiv.l -= dec->fmt[i].p_len - (dst - dec->fmt[i].p); dec->fmt[i].p_len = dst - dec->fmt[i].p; } rec->unpacked |= BCF_UN_FMT; rec->n_sample = bcf_hdr_nsamples(hdr); return 0; } int bcf_read(htsFile *fp, const bcf_hdr_t *h, bcf1_t *v) { if (fp->format.format == vcf) return vcf_read(fp,h,v); int ret = bcf_read1_core(fp->fp.bgzf, v); if ( ret!=0 || !h->keep_samples ) return ret; return bcf_subset_format(h,v); } int bcf_readrec(BGZF *fp, void *null, void *vv, int *tid, int *beg, int *end) { bcf1_t *v = (bcf1_t *) vv; int ret; if ((ret = bcf_read1_core(fp, v)) >= 0) *tid = v->rid, *beg = v->pos, *end = v->pos + v->rlen; return ret; } static inline void bcf1_sync_id(bcf1_t *line, kstring_t *str) { // single typed string if ( line->d.id && strcmp(line->d.id, ".") ) bcf_enc_vchar(str, strlen(line->d.id), line->d.id); else bcf_enc_size(str, 0, BCF_BT_CHAR); } static inline void bcf1_sync_alleles(bcf1_t *line, kstring_t *str) { // list of typed strings int i; for (i=0; i<line->n_allele; i++) bcf_enc_vchar(str, strlen(line->d.allele[i]), line->d.allele[i]); if ( !line->rlen && line->n_allele ) line->rlen = strlen(line->d.allele[0]); } static inline void bcf1_sync_filter(bcf1_t *line, kstring_t *str) { // typed vector of integers if ( line->d.n_flt ) bcf_enc_vint(str, line->d.n_flt, line->d.flt, -1); else bcf_enc_vint(str, 0, 0, -1); } static inline void bcf1_sync_info(bcf1_t *line, kstring_t *str) { // pairs of typed vectors int i, irm = -1; for (i=0; i<line->n_info; i++) { bcf_info_t *info = &line->d.info[i]; if ( !info->vptr ) { // marked for removal if ( irm < 0 ) irm = i; continue; } kputsn_(info->vptr - info->vptr_off, info->vptr_len + info->vptr_off, str); if ( irm >=0 ) { bcf_info_t tmp = line->d.info[irm]; line->d.info[irm] = line->d.info[i]; line->d.info[i] = tmp; while ( irm<=i && line->d.info[irm].vptr ) irm++; } } if ( irm>=0 ) line->n_info = irm; } static int bcf1_sync(bcf1_t *line) { char *shared_ori = line->shared.s; size_t prev_len; kstring_t tmp = {0,0,0}; if ( !line->shared.l ) { // New line created via API, BCF data blocks do not exist. Get it ready for BCF output tmp = line->shared; bcf1_sync_id(line, &tmp); line->unpack_size[0] = tmp.l; prev_len = tmp.l; bcf1_sync_alleles(line, &tmp); line->unpack_size[1] = tmp.l - prev_len; prev_len = tmp.l; bcf1_sync_filter(line, &tmp); line->unpack_size[2] = tmp.l - prev_len; bcf1_sync_info(line, &tmp); line->shared = tmp; } else if ( line->d.shared_dirty ) { // The line was edited, update the BCF data block, ptr_ori points // to the original unchanged BCF data. uint8_t *ptr_ori = (uint8_t *) line->shared.s; assert( line->unpacked & BCF_UN_STR ); // ID: single typed string if ( line->d.shared_dirty & BCF1_DIRTY_ID ) bcf1_sync_id(line, &tmp); else kputsn_(ptr_ori, line->unpack_size[0], &tmp); ptr_ori += line->unpack_size[0]; line->unpack_size[0] = tmp.l; prev_len = tmp.l; // REF+ALT: list of typed strings if ( line->d.shared_dirty & BCF1_DIRTY_ALS ) bcf1_sync_alleles(line, &tmp); else { kputsn_(ptr_ori, line->unpack_size[1], &tmp); if ( !line->rlen && line->n_allele ) line->rlen = strlen(line->d.allele[0]); } ptr_ori += line->unpack_size[1]; line->unpack_size[1] = tmp.l - prev_len; prev_len = tmp.l; if ( line->unpacked & BCF_UN_FLT ) { // FILTER: typed vector of integers if ( line->d.shared_dirty & BCF1_DIRTY_FLT ) bcf1_sync_filter(line, &tmp); else if ( line->d.n_flt ) kputsn_(ptr_ori, line->unpack_size[2], &tmp); else bcf_enc_vint(&tmp, 0, 0, -1); ptr_ori += line->unpack_size[2]; line->unpack_size[2] = tmp.l - prev_len; if ( line->unpacked & BCF_UN_INFO ) { // INFO: pairs of typed vectors if ( line->d.shared_dirty & BCF1_DIRTY_INF ) { bcf1_sync_info(line, &tmp); ptr_ori = (uint8_t*)line->shared.s + line->shared.l; } } } int size = line->shared.l - (size_t)ptr_ori + (size_t)line->shared.s; if ( size ) kputsn_(ptr_ori, size, &tmp); free(line->shared.s); line->shared = tmp; } if ( line->shared.s != shared_ori && line->unpacked & BCF_UN_INFO ) { // Reallocated line->shared.s block invalidated line->d.info[].vptr pointers size_t off_new = line->unpack_size[0] + line->unpack_size[1] + line->unpack_size[2]; int i; for (i=0; i<line->n_info; i++) { uint8_t *vptr_free = line->d.info[i].vptr_free ? line->d.info[i].vptr - line->d.info[i].vptr_off : NULL; line->d.info[i].vptr = (uint8_t*) line->shared.s + off_new + line->d.info[i].vptr_off; off_new += line->d.info[i].vptr_len + line->d.info[i].vptr_off; if ( vptr_free ) { free(vptr_free); line->d.info[i].vptr_free = 0; } } } if ( line->n_sample && line->n_fmt && (!line->indiv.l || line->d.indiv_dirty) ) { // The genotype fields changed or are not present tmp.l = tmp.m = 0; tmp.s = NULL; int i, irm = -1; for (i=0; i<line->n_fmt; i++) { bcf_fmt_t *fmt = &line->d.fmt[i]; if ( !fmt->p ) { // marked for removal if ( irm < 0 ) irm = i; continue; } kputsn_(fmt->p - fmt->p_off, fmt->p_len + fmt->p_off, &tmp); if ( irm >=0 ) { bcf_fmt_t tfmt = line->d.fmt[irm]; line->d.fmt[irm] = line->d.fmt[i]; line->d.fmt[i] = tfmt; while ( irm<=i && line->d.fmt[irm].p ) irm++; } } if ( irm>=0 ) line->n_fmt = irm; free(line->indiv.s); line->indiv = tmp; // Reallocated line->indiv.s block invalidated line->d.fmt[].p pointers size_t off_new = 0; for (i=0; i<line->n_fmt; i++) { uint8_t *p_free = line->d.fmt[i].p_free ? line->d.fmt[i].p - line->d.fmt[i].p_off : NULL; line->d.fmt[i].p = (uint8_t*) line->indiv.s + off_new + line->d.fmt[i].p_off; off_new += line->d.fmt[i].p_len + line->d.fmt[i].p_off; if ( p_free ) { free(p_free); line->d.fmt[i].p_free = 0; } } } if ( !line->n_sample ) line->n_fmt = 0; line->d.shared_dirty = line->d.indiv_dirty = 0; return 0; } bcf1_t *bcf_copy(bcf1_t *dst, bcf1_t *src) { bcf1_sync(src); bcf_clear(dst); dst->rid = src->rid; dst->pos = src->pos; dst->rlen = src->rlen; dst->qual = src->qual; dst->n_info = src->n_info; dst->n_allele = src->n_allele; dst->n_fmt = src->n_fmt; dst->n_sample = src->n_sample; dst->shared.m = dst->shared.l = src->shared.l; dst->shared.s = (char*) malloc(dst->shared.l); memcpy(dst->shared.s,src->shared.s,dst->shared.l); dst->indiv.m = dst->indiv.l = src->indiv.l; dst->indiv.s = (char*) malloc(dst->indiv.l); memcpy(dst->indiv.s,src->indiv.s,dst->indiv.l); return dst; } bcf1_t *bcf_dup(bcf1_t *src) { bcf1_t *out = bcf_init1(); return bcf_copy(out, src); } int bcf_write(htsFile *hfp, const bcf_hdr_t *h, bcf1_t *v) { if ( h->dirty ) { // we could as well call bcf_hdr_sync here, not sure fprintf(stderr,"FIXME: dirty header not synced\n"); exit(1); } if ( bcf_hdr_nsamples(h)!=v->n_sample ) { fprintf(stderr,"[%s:%d %s] Broken VCF record, the number of columns at %s:%d does not match the number of samples (%d vs %d).\n", __FILE__,__LINE__,__FUNCTION__,bcf_seqname(h,v),v->pos+1, v->n_sample,bcf_hdr_nsamples(h)); return -1; } if ( hfp->format.format == vcf || hfp->format.format == text_format ) return vcf_write(hfp,h,v); if ( v->errcode ) { // vcf_parse1() encountered a new contig or tag, undeclared in the // header. At this point, the header must have been printed, // proceeding would lead to a broken BCF file. Errors must be checked // and cleared by the caller before we can proceed. fprintf(stderr,"[%s:%d %s] Unchecked error (%d), exiting.\n", __FILE__,__LINE__,__FUNCTION__,v->errcode); exit(1); } bcf1_sync(v); // check if the BCF record was modified BGZF *fp = hfp->fp.bgzf; uint32_t x[8]; x[0] = v->shared.l + 24; // to include six 32-bit integers x[1] = v->indiv.l; memcpy(x + 2, v, 16); x[6] = (uint32_t)v->n_allele<<16 | v->n_info; x[7] = (uint32_t)v->n_fmt<<24 | v->n_sample; if ( bgzf_write(fp, x, 32) != 32 ) return -1; if ( bgzf_write(fp, v->shared.s, v->shared.l) != v->shared.l ) return -1; if ( bgzf_write(fp, v->indiv.s, v->indiv.l) != v->indiv.l ) return -1; return 0; } /********************** *** VCF header I/O *** **********************/ bcf_hdr_t *vcf_hdr_read(htsFile *fp) { kstring_t txt, *s = &fp->line; bcf_hdr_t *h; h = bcf_hdr_init("r"); txt.l = txt.m = 0; txt.s = 0; while (hts_getline(fp, KS_SEP_LINE, s) >= 0) { if (s->l == 0) continue; if (s->s[0] != '#') { if (hts_verbose >= 2) fprintf(stderr, "[E::%s] no sample line\n", __func__); free(txt.s); bcf_hdr_destroy(h); return 0; } if (s->s[1] != '#' && fp->fn_aux) { // insert contigs here int dret; gzFile f; kstream_t *ks; kstring_t tmp; tmp.l = tmp.m = 0; tmp.s = 0; f = gzopen(fp->fn_aux, "r"); ks = ks_init(f); while (ks_getuntil(ks, 0, &tmp, &dret) >= 0) { int c; kputs("##contig=<ID=", &txt); kputs(tmp.s, &txt); ks_getuntil(ks, 0, &tmp, &dret); kputs(",length=", &txt); kputw(atol(tmp.s), &txt); kputsn(">\n", 2, &txt); if (dret != '\n') while ((c = ks_getc(ks)) != '\n' && c != -1); // skip the rest of the line } free(tmp.s); ks_destroy(ks); gzclose(f); } kputsn(s->s, s->l, &txt); kputc('\n', &txt); if (s->s[1] != '#') break; } if ( !txt.s ) { fprintf(stderr,"[%s:%d %s] Could not read the header\n", __FILE__,__LINE__,__FUNCTION__); return NULL; } bcf_hdr_parse(h, txt.s); // check tabix index, are all contigs listed in the header? add the missing ones tbx_t *idx = tbx_index_load(fp->fn); if ( idx ) { int i, n, need_sync = 0; const char **names = tbx_seqnames(idx, &n); for (i=0; i<n; i++) { bcf_hrec_t *hrec = bcf_hdr_get_hrec(h, BCF_HL_CTG, "ID", (char*) names[i], NULL); if ( hrec ) continue; hrec = (bcf_hrec_t*) calloc(1,sizeof(bcf_hrec_t)); hrec->key = strdup("contig"); bcf_hrec_add_key(hrec, "ID", strlen("ID")); bcf_hrec_set_val(hrec, hrec->nkeys-1, (char*) names[i], strlen(names[i]), 0); bcf_hdr_add_hrec(h, hrec); need_sync = 1; } free(names); tbx_destroy(idx); if ( need_sync ) bcf_hdr_sync(h); } free(txt.s); return h; } int bcf_hdr_set(bcf_hdr_t *hdr, const char *fname) { int i, n; char **lines = hts_readlines(fname, &n); if ( !lines ) return 1; for (i=0; i<n-1; i++) { int k; bcf_hrec_t *hrec = bcf_hdr_parse_line(hdr,lines[i],&k); if ( hrec ) bcf_hdr_add_hrec(hdr, hrec); free(lines[i]); } bcf_hdr_parse_sample_line(hdr,lines[n-1]); free(lines[n-1]); free(lines); bcf_hdr_sync(hdr); return 0; } static void _bcf_hrec_format(const bcf_hrec_t *hrec, int is_bcf, kstring_t *str) { if ( !hrec->value ) { int j, nout = 0; ksprintf(str, "##%s=<", hrec->key); for (j=0; j<hrec->nkeys; j++) { // do not output IDX if output is VCF if ( !is_bcf && !strcmp("IDX",hrec->keys[j]) ) continue; if ( nout ) kputc(',',str); ksprintf(str,"%s=%s", hrec->keys[j], hrec->vals[j]); nout++; } ksprintf(str,">\n"); } else ksprintf(str,"##%s=%s\n", hrec->key,hrec->value); } void bcf_hrec_format(const bcf_hrec_t *hrec, kstring_t *str) { _bcf_hrec_format(hrec,0,str); } char *bcf_hdr_fmt_text(const bcf_hdr_t *hdr, int is_bcf, int *len) { int i; kstring_t txt = {0,0,0}; for (i=0; i<hdr->nhrec; i++) _bcf_hrec_format(hdr->hrec[i], is_bcf, &txt); ksprintf(&txt,"#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO"); if ( bcf_hdr_nsamples(hdr) ) { ksprintf(&txt,"\tFORMAT"); for (i=0; i<bcf_hdr_nsamples(hdr); i++) ksprintf(&txt,"\t%s", hdr->samples[i]); } ksprintf(&txt,"\n"); if ( len ) *len = txt.l; return txt.s; } const char **bcf_hdr_seqnames(const bcf_hdr_t *h, int *n) { vdict_t *d = (vdict_t*)h->dict[BCF_DT_CTG]; int tid, m = kh_size(d); const char **names = (const char**) calloc(m,sizeof(const char*)); khint_t k; for (k=kh_begin(d); k<kh_end(d); k++) { if ( !kh_exist(d,k) ) continue; tid = kh_val(d,k).id; assert( tid<m ); names[tid] = kh_key(d,k); } // sanity check: there should be no gaps for (tid=0; tid<m; tid++) assert(names[tid]); *n = m; return names; } int vcf_hdr_write(htsFile *fp, const bcf_hdr_t *h) { int hlen; char *htxt = bcf_hdr_fmt_text(h, 0, &hlen); while (hlen && htxt[hlen-1] == 0) --hlen; // kill trailing zeros int ret; if ( fp->format.compression!=no_compression ) ret = bgzf_write(fp->fp.bgzf, htxt, hlen); else ret = hwrite(fp->fp.hfile, htxt, hlen); free(htxt); return ret<0 ? -1 : 0; } /*********************** *** Typed value I/O *** ***********************/ void bcf_enc_vint(kstring_t *s, int n, int32_t *a, int wsize) { int32_t max = INT32_MIN + 1, min = INT32_MAX; int i; if (n == 0) bcf_enc_size(s, 0, BCF_BT_NULL); else if (n == 1) bcf_enc_int1(s, a[0]); else { if (wsize <= 0) wsize = n; for (i = 0; i < n; ++i) { if (a[i] == bcf_int32_missing || a[i] == bcf_int32_vector_end ) continue; if (max < a[i]) max = a[i]; if (min > a[i]) min = a[i]; } if (max <= INT8_MAX && min > bcf_int8_vector_end) { bcf_enc_size(s, wsize, BCF_BT_INT8); for (i = 0; i < n; ++i) if ( a[i]==bcf_int32_vector_end ) kputc(bcf_int8_vector_end, s); else if ( a[i]==bcf_int32_missing ) kputc(bcf_int8_missing, s); else kputc(a[i], s); } else if (max <= INT16_MAX && min > bcf_int16_vector_end) { bcf_enc_size(s, wsize, BCF_BT_INT16); for (i = 0; i < n; ++i) { int16_t x; if ( a[i]==bcf_int32_vector_end ) x = bcf_int16_vector_end; else if ( a[i]==bcf_int32_missing ) x = bcf_int16_missing; else x = a[i]; kputsn((char*)&x, 2, s); } } else { bcf_enc_size(s, wsize, BCF_BT_INT32); for (i = 0; i < n; ++i) { int32_t x = a[i]; kputsn((char*)&x, 4, s); } } } } void bcf_enc_vfloat(kstring_t *s, int n, float *a) { bcf_enc_size(s, n, BCF_BT_FLOAT); kputsn((char*)a, n << 2, s); } void bcf_enc_vchar(kstring_t *s, int l, const char *a) { bcf_enc_size(s, l, BCF_BT_CHAR); kputsn(a, l, s); } void bcf_fmt_array(kstring_t *s, int n, int type, void *data) { int j = 0; if (n == 0) { kputc('.', s); return; } if (type == BCF_BT_CHAR) { char *p = (char*)data; for (j = 0; j < n && *p; ++j, ++p) { if ( *p==bcf_str_missing ) kputc('.', s); else kputc(*p, s); } } else { #define BRANCH(type_t, is_missing, is_vector_end, kprint) { \ type_t *p = (type_t *) data; \ for (j=0; j<n; j++) \ { \ if ( is_vector_end ) break; \ if ( j ) kputc(',', s); \ if ( is_missing ) kputc('.', s); \ else kprint; \ } \ } switch (type) { case BCF_BT_INT8: BRANCH(int8_t, p[j]==bcf_int8_missing, p[j]==bcf_int8_vector_end, kputw(p[j], s)); break; case BCF_BT_INT16: BRANCH(int16_t, p[j]==bcf_int16_missing, p[j]==bcf_int16_vector_end, kputw(p[j], s)); break; case BCF_BT_INT32: BRANCH(int32_t, p[j]==bcf_int32_missing, p[j]==bcf_int32_vector_end, kputw(p[j], s)); break; case BCF_BT_FLOAT: BRANCH(float, bcf_float_is_missing(p[j]), bcf_float_is_vector_end(p[j]), ksprintf(s, "%g", p[j])); break; default: fprintf(stderr,"todo: type %d\n", type); exit(1); break; } #undef BRANCH } } uint8_t *bcf_fmt_sized_array(kstring_t *s, uint8_t *ptr) { int x, type; x = bcf_dec_size(ptr, &ptr, &type); bcf_fmt_array(s, x, type, ptr); return ptr + (x << bcf_type_shift[type]); } /******************** *** VCF site I/O *** ********************/ typedef struct { int key, max_m, size, offset; uint32_t is_gt:1, max_g:15, max_l:16; uint32_t y; uint8_t *buf; } fmt_aux_t; static inline void align_mem(kstring_t *s) { if (s->l&7) { uint64_t zero = 0; int l = ((s->l + 7)>>3<<3) - s->l; kputsn((char*)&zero, l, s); } } // p,q is the start and the end of the FORMAT field int _vcf_parse_format(kstring_t *s, const bcf_hdr_t *h, bcf1_t *v, char *p, char *q) { if ( !bcf_hdr_nsamples(h) ) return 0; char *r, *t; int j, l, m, g; khint_t k; ks_tokaux_t aux1; vdict_t *d = (vdict_t*)h->dict[BCF_DT_ID]; kstring_t *mem = (kstring_t*)&h->mem; mem->l = 0; // count the number of format fields for (r = p, v->n_fmt = 1; *r; ++r) if (*r == ':') ++v->n_fmt; char *end = s->s + s->l; if ( q>=end ) { fprintf(stderr,"[%s:%d %s] Error: FORMAT column with no sample columns starting at %s:%d\n", __FILE__,__LINE__,__FUNCTION__,s->s,v->pos+1); return -1; } fmt_aux_t *fmt = (fmt_aux_t*)alloca(v->n_fmt * sizeof(fmt_aux_t)); // get format information from the dictionary for (j = 0, t = kstrtok(p, ":", &aux1); t; t = kstrtok(0, 0, &aux1), ++j) { *(char*)aux1.p = 0; k = kh_get(vdict, d, t); if (k == kh_end(d) || kh_val(d, k).info[BCF_HL_FMT] == 15) { fprintf(stderr, "[W::%s] FORMAT '%s' is not defined in the header, assuming Type=String\n", __func__, t); kstring_t tmp = {0,0,0}; int l; ksprintf(&tmp, "##FORMAT=<ID=%s,Number=1,Type=String,Description=\"Dummy\">", t); bcf_hrec_t *hrec = bcf_hdr_parse_line(h,tmp.s,&l); free(tmp.s); if ( bcf_hdr_add_hrec((bcf_hdr_t*)h, hrec) ) bcf_hdr_sync((bcf_hdr_t*)h); k = kh_get(vdict, d, t); v->errcode = BCF_ERR_TAG_UNDEF; } fmt[j].max_l = fmt[j].max_m = fmt[j].max_g = 0; fmt[j].key = kh_val(d, k).id; fmt[j].is_gt = !strcmp(t, "GT"); fmt[j].y = h->id[0][fmt[j].key].val->info[BCF_HL_FMT]; } // compute max int n_sample_ori = -1; r = q + 1; // r: position in the format string m = l = g = 1, v->n_sample = 0; // m: max vector size, l: max field len, g: max number of alleles while ( r<end ) { // can we skip some samples? if ( h->keep_samples ) { n_sample_ori++; if ( !bit_array_test(h->keep_samples,n_sample_ori) ) { while ( *r!='\t' && r<end ) r++; if ( *r=='\t' ) { *r = 0; r++; } continue; } } // collect fmt stats: max vector size, length, number of alleles j = 0; // j-th format field for (;;) { if ( *r == '\t' ) *r = 0; if ( *r == ':' || !*r ) // end of field or end of sample { if (fmt[j].max_m < m) fmt[j].max_m = m; if (fmt[j].max_l < l - 1) fmt[j].max_l = l - 1; if (fmt[j].is_gt && fmt[j].max_g < g) fmt[j].max_g = g; l = 0, m = g = 1; if ( *r==':' ) { j++; if ( j>=v->n_fmt ) { fprintf(stderr,"Incorrect number of FORMAT fields at %s:%d\n", h->id[BCF_DT_CTG][v->rid].key,v->pos+1); exit(1); } } else break; } else if ( *r== ',' ) m++; else if ( fmt[j].is_gt && (*r == '|' || *r == '/') ) g++; if ( r>=end ) break; r++; l++; } v->n_sample++; if ( v->n_sample == bcf_hdr_nsamples(h) ) break; r++; } // allocate memory for arrays for (j = 0; j < v->n_fmt; ++j) { fmt_aux_t *f = &fmt[j]; if ( !f->max_m ) f->max_m = 1; // omitted trailing format field if ((f->y>>4&0xf) == BCF_HT_STR) { f->size = f->is_gt? f->max_g << 2 : f->max_l; } else if ((f->y>>4&0xf) == BCF_HT_REAL || (f->y>>4&0xf) == BCF_HT_INT) { f->size = f->max_m << 2; } else { fprintf(stderr, "[E::%s] the format type %d currently not supported\n", __func__, f->y>>4&0xf); abort(); // I do not know how to do with Flag in the genotype fields } align_mem(mem); f->offset = mem->l; ks_resize(mem, mem->l + v->n_sample * f->size); mem->l += v->n_sample * f->size; } for (j = 0; j < v->n_fmt; ++j) fmt[j].buf = (uint8_t*)mem->s + fmt[j].offset; // fill the sample fields; at beginning of the loop, t points to the first char of a format n_sample_ori = -1; t = q + 1; m = 0; // m: sample id while ( t<end ) { // can we skip some samples? if ( h->keep_samples ) { n_sample_ori++; if ( !bit_array_test(h->keep_samples,n_sample_ori) ) { while ( *t && t<end ) t++; t++; continue; } } if ( m == bcf_hdr_nsamples(h) ) break; j = 0; // j-th format field, m-th sample while ( *t ) { fmt_aux_t *z = &fmt[j]; if ((z->y>>4&0xf) == BCF_HT_STR) { if (z->is_gt) { // genotypes int32_t is_phased = 0, *x = (int32_t*)(z->buf + z->size * m); for (l = 0;; ++t) { if (*t == '.') ++t, x[l++] = is_phased; else x[l++] = (strtol(t, &t, 10) + 1) << 1 | is_phased; #if THOROUGH_SANITY_CHECKS assert( 0 ); // success of strtol,strtod not checked #endif is_phased = (*t == '|'); if (*t == ':' || *t == 0) break; } if ( !l ) x[l++] = 0; // An empty field, insert missing value for (; l < z->size>>2; ++l) x[l] = bcf_int32_vector_end; } else { char *x = (char*)z->buf + z->size * m; for (r = t, l = 0; *t != ':' && *t; ++t) x[l++] = *t; for (; l < z->size; ++l) x[l] = 0; } } else if ((z->y>>4&0xf) == BCF_HT_INT) { int32_t *x = (int32_t*)(z->buf + z->size * m); for (l = 0;; ++t) { if (*t == '.') x[l++] = bcf_int32_missing, ++t; // ++t to skip "." else x[l++] = strtol(t, &t, 10); if (*t == ':' || *t == 0) break; } if ( !l ) x[l++] = bcf_int32_missing; for (; l < z->size>>2; ++l) x[l] = bcf_int32_vector_end; } else if ((z->y>>4&0xf) == BCF_HT_REAL) { float *x = (float*)(z->buf + z->size * m); for (l = 0;; ++t) { if (*t == '.' && !isdigit(t[1])) bcf_float_set_missing(x[l++]), ++t; // ++t to skip "." else x[l++] = strtod(t, &t); if (*t == ':' || *t == 0) break; } if ( !l ) bcf_float_set_missing(x[l++]); // An empty field, insert missing value for (; l < z->size>>2; ++l) bcf_float_set_vector_end(x[l]); } else abort(); if (*t == 0) { for (++j; j < v->n_fmt; ++j) { // fill end-of-vector values z = &fmt[j]; if ((z->y>>4&0xf) == BCF_HT_STR) { if (z->is_gt) { int32_t *x = (int32_t*)(z->buf + z->size * m); x[0] = bcf_int32_missing; for (l = 1; l < z->size>>2; ++l) x[l] = bcf_int32_vector_end; } else { char *x = (char*)z->buf + z->size * m; if ( z->size ) x[0] = '.'; for (l = 1; l < z->size; ++l) x[l] = 0; } } else if ((z->y>>4&0xf) == BCF_HT_INT) { int32_t *x = (int32_t*)(z->buf + z->size * m); x[0] = bcf_int32_missing; for (l = 1; l < z->size>>2; ++l) x[l] = bcf_int32_vector_end; } else if ((z->y>>4&0xf) == BCF_HT_REAL) { float *x = (float*)(z->buf + z->size * m); bcf_float_set_missing(x[0]); for (l = 1; l < z->size>>2; ++l) bcf_float_set_vector_end(x[l]); } } break; } else { if (*t == ':') ++j; t++; } } m++; t++; } // write individual genotype information kstring_t *str = &v->indiv; int i; if (v->n_sample > 0) { for (i = 0; i < v->n_fmt; ++i) { fmt_aux_t *z = &fmt[i]; bcf_enc_int1(str, z->key); if ((z->y>>4&0xf) == BCF_HT_STR && !z->is_gt) { bcf_enc_size(str, z->size, BCF_BT_CHAR); kputsn((char*)z->buf, z->size * v->n_sample, str); } else if ((z->y>>4&0xf) == BCF_HT_INT || z->is_gt) { bcf_enc_vint(str, (z->size>>2) * v->n_sample, (int32_t*)z->buf, z->size>>2); } else { bcf_enc_size(str, z->size>>2, BCF_BT_FLOAT); kputsn((char*)z->buf, z->size * v->n_sample, str); } } } if ( v->n_sample!=bcf_hdr_nsamples(h) ) { fprintf(stderr,"[%s:%d %s] Number of columns at %s:%d does not match the number of samples (%d vs %d).\n", __FILE__,__LINE__,__FUNCTION__,bcf_seqname(h,v),v->pos+1, v->n_sample,bcf_hdr_nsamples(h)); v->errcode |= BCF_ERR_NCOLS; return -1; } return 0; } int vcf_parse(kstring_t *s, const bcf_hdr_t *h, bcf1_t *v) { int i = 0; char *p, *q, *r, *t; kstring_t *str; khint_t k; ks_tokaux_t aux; bcf_clear1(v); str = &v->shared; memset(&aux, 0, sizeof(ks_tokaux_t)); for (p = kstrtok(s->s, "\t", &aux), i = 0; p; p = kstrtok(0, 0, &aux), ++i) { q = (char*)aux.p; *q = 0; if (i == 0) { // CHROM vdict_t *d = (vdict_t*)h->dict[BCF_DT_CTG]; k = kh_get(vdict, d, p); if (k == kh_end(d)) { // Simple error recovery for chromosomes not defined in the header. It will not help when VCF header has // been already printed, but will enable tools like vcfcheck to proceed. fprintf(stderr, "[W::%s] contig '%s' is not defined in the header. (Quick workaround: index the file with tabix.)\n", __func__, p); kstring_t tmp = {0,0,0}; int l; ksprintf(&tmp, "##contig=<ID=%s>", p); bcf_hrec_t *hrec = bcf_hdr_parse_line(h,tmp.s,&l); free(tmp.s); if ( bcf_hdr_add_hrec((bcf_hdr_t*)h, hrec) ) bcf_hdr_sync((bcf_hdr_t*)h); k = kh_get(vdict, d, p); v->errcode = BCF_ERR_CTG_UNDEF; } v->rid = kh_val(d, k).id; } else if (i == 1) { // POS v->pos = atoi(p) - 1; } else if (i == 2) { // ID if (strcmp(p, ".")) bcf_enc_vchar(str, q - p, p); else bcf_enc_size(str, 0, BCF_BT_CHAR); } else if (i == 3) { // REF bcf_enc_vchar(str, q - p, p); v->n_allele = 1, v->rlen = q - p; } else if (i == 4) { // ALT if (strcmp(p, ".")) { for (r = t = p;; ++r) { if (*r == ',' || *r == 0) { bcf_enc_vchar(str, r - t, t); t = r + 1; ++v->n_allele; } if (r == q) break; } } } else if (i == 5) { // QUAL if (strcmp(p, ".")) v->qual = atof(p); else memcpy(&v->qual, &bcf_float_missing, 4); if ( v->max_unpack && !(v->max_unpack>>1) ) return 0; // BCF_UN_STR } else if (i == 6) { // FILTER if (strcmp(p, ".")) { int32_t *a; int n_flt = 1, i; ks_tokaux_t aux1; vdict_t *d = (vdict_t*)h->dict[BCF_DT_ID]; // count the number of filters if (*(q-1) == ';') *(q-1) = 0; for (r = p; *r; ++r) if (*r == ';') ++n_flt; a = (int32_t*)alloca(n_flt * sizeof(int32_t)); // add filters for (t = kstrtok(p, ";", &aux1), i = 0; t; t = kstrtok(0, 0, &aux1)) { *(char*)aux1.p = 0; k = kh_get(vdict, d, t); if (k == kh_end(d)) { // Simple error recovery for FILTERs not defined in the header. It will not help when VCF header has // been already printed, but will enable tools like vcfcheck to proceed. fprintf(stderr, "[W::%s] FILTER '%s' is not defined in the header\n", __func__, t); kstring_t tmp = {0,0,0}; int l; ksprintf(&tmp, "##FILTER=<ID=%s,Description=\"Dummy\">", t); bcf_hrec_t *hrec = bcf_hdr_parse_line(h,tmp.s,&l); free(tmp.s); if ( bcf_hdr_add_hrec((bcf_hdr_t*)h, hrec) ) bcf_hdr_sync((bcf_hdr_t*)h); k = kh_get(vdict, d, t); v->errcode = BCF_ERR_TAG_UNDEF; } a[i++] = kh_val(d, k).id; } n_flt = i; bcf_enc_vint(str, n_flt, a, -1); } else bcf_enc_vint(str, 0, 0, -1); if ( v->max_unpack && !(v->max_unpack>>2) ) return 0; // BCF_UN_FLT } else if (i == 7) { // INFO char *key; vdict_t *d = (vdict_t*)h->dict[BCF_DT_ID]; v->n_info = 0; if (strcmp(p, ".")) { if (*(q-1) == ';') *(q-1) = 0; for (r = key = p;; ++r) { int c; char *val, *end; if (*r != ';' && *r != '=' && *r != 0) continue; val = end = 0; c = *r; *r = 0; if (c == '=') { val = r + 1; for (end = val; *end != ';' && *end != 0; ++end); c = *end; *end = 0; } else end = r; if ( !*key ) { if (c==0) break; r = end; key = r + 1; continue; } // faulty VCF, ";;" in the INFO k = kh_get(vdict, d, key); if (k == kh_end(d) || kh_val(d, k).info[BCF_HL_INFO] == 15) { fprintf(stderr, "[W::%s] INFO '%s' is not defined in the header, assuming Type=String\n", __func__, key); kstring_t tmp = {0,0,0}; int l; ksprintf(&tmp, "##INFO=<ID=%s,Number=1,Type=String,Description=\"Dummy\">", key); bcf_hrec_t *hrec = bcf_hdr_parse_line(h,tmp.s,&l); free(tmp.s); if ( bcf_hdr_add_hrec((bcf_hdr_t*)h, hrec) ) bcf_hdr_sync((bcf_hdr_t*)h); k = kh_get(vdict, d, key); v->errcode = BCF_ERR_TAG_UNDEF; } uint32_t y = kh_val(d, k).info[BCF_HL_INFO]; ++v->n_info; bcf_enc_int1(str, kh_val(d, k).id); if (val == 0) { bcf_enc_size(str, 0, BCF_BT_NULL); } else if ((y>>4&0xf) == BCF_HT_FLAG || (y>>4&0xf) == BCF_HT_STR) { // if Flag has a value, treat it as a string bcf_enc_vchar(str, end - val, val); } else { // int/float value/array int i, n_val; char *t, *te; for (t = val, n_val = 1; *t; ++t) // count the number of values if (*t == ',') ++n_val; if ((y>>4&0xf) == BCF_HT_INT) { int32_t *z; z = (int32_t*)alloca(n_val * sizeof(int32_t)); for (i = 0, t = val; i < n_val; ++i, ++t) { z[i] = strtol(t, &te, 10); if ( te==t ) // conversion failed { z[i] = bcf_int32_missing; while ( *te && *te!=',' ) te++; } t = te; } bcf_enc_vint(str, n_val, z, -1); if (strcmp(key, "END") == 0) v->rlen = z[0] - v->pos; } else if ((y>>4&0xf) == BCF_HT_REAL) { float *z; z = (float*)alloca(n_val * sizeof(float)); for (i = 0, t = val; i < n_val; ++i, ++t) { z[i] = strtod(t, &te); if ( te==t ) // conversion failed { bcf_float_set_missing(z[i]); while ( *te && *te!=',' ) te++; } t = te; } bcf_enc_vfloat(str, n_val, z); } } if (c == 0) break; r = end; key = r + 1; } } if ( v->max_unpack && !(v->max_unpack>>3) ) return 0; } else if (i == 8) // FORMAT return _vcf_parse_format(s, h, v, p, q); } return 0; } int vcf_read(htsFile *fp, const bcf_hdr_t *h, bcf1_t *v) { int ret; ret = hts_getline(fp, KS_SEP_LINE, &fp->line); if (ret < 0) return -1; return vcf_parse1(&fp->line, h, v); } static inline uint8_t *bcf_unpack_fmt_core1(uint8_t *ptr, int n_sample, bcf_fmt_t *fmt) { uint8_t *ptr_start = ptr; fmt->id = bcf_dec_typed_int1(ptr, &ptr); fmt->n = bcf_dec_size(ptr, &ptr, &fmt->type); fmt->size = fmt->n << bcf_type_shift[fmt->type]; fmt->p = ptr; fmt->p_off = ptr - ptr_start; fmt->p_free = 0; ptr += n_sample * fmt->size; fmt->p_len = ptr - fmt->p; return ptr; } static inline uint8_t *bcf_unpack_info_core1(uint8_t *ptr, bcf_info_t *info) { uint8_t *ptr_start = ptr; info->key = bcf_dec_typed_int1(ptr, &ptr); info->len = bcf_dec_size(ptr, &ptr, &info->type); info->vptr = ptr; info->vptr_off = ptr - ptr_start; info->vptr_free = 0; info->v1.i = 0; if (info->len == 1) { if (info->type == BCF_BT_INT8 || info->type == BCF_BT_CHAR) info->v1.i = *(int8_t*)ptr; else if (info->type == BCF_BT_INT32) info->v1.i = *(int32_t*)ptr; else if (info->type == BCF_BT_FLOAT) info->v1.f = *(float*)ptr; else if (info->type == BCF_BT_INT16) info->v1.i = *(int16_t*)ptr; } ptr += info->len << bcf_type_shift[info->type]; info->vptr_len = ptr - info->vptr; return ptr; } int bcf_unpack(bcf1_t *b, int which) { if ( !b->shared.l ) return 0; // Building a new BCF record from scratch uint8_t *ptr = (uint8_t*)b->shared.s, *ptr_ori; int *offset, i; bcf_dec_t *d = &b->d; if (which & BCF_UN_FLT) which |= BCF_UN_STR; if (which & BCF_UN_INFO) which |= BCF_UN_SHR; if ((which&BCF_UN_STR) && !(b->unpacked&BCF_UN_STR)) { kstring_t tmp; // ID tmp.l = 0; tmp.s = d->id; tmp.m = d->m_id; ptr_ori = ptr; ptr = bcf_fmt_sized_array(&tmp, ptr); b->unpack_size[0] = ptr - ptr_ori; kputc('\0', &tmp); d->id = tmp.s; d->m_id = tmp.m; // REF and ALT are in a single block (d->als) and d->alleles are pointers into this block tmp.l = 0; tmp.s = d->als; tmp.m = d->m_als; offset = (int*)alloca(b->n_allele * sizeof(int)); ptr_ori = ptr; for (i = 0; i < b->n_allele; ++i) { offset[i] = tmp.l; ptr = bcf_fmt_sized_array(&tmp, ptr); kputc('\0', &tmp); } b->unpack_size[1] = ptr - ptr_ori; d->als = tmp.s; d->m_als = tmp.m; hts_expand(char*, b->n_allele, d->m_allele, d->allele); // NM: hts_expand() is a macro for (i = 0; i < b->n_allele; ++i) d->allele[i] = d->als + offset[i]; b->unpacked |= BCF_UN_STR; } if ((which&BCF_UN_FLT) && !(b->unpacked&BCF_UN_FLT)) { // FILTER ptr = (uint8_t*)b->shared.s + b->unpack_size[0] + b->unpack_size[1]; ptr_ori = ptr; if (*ptr>>4) { int type; d->n_flt = bcf_dec_size(ptr, &ptr, &type); hts_expand(int, d->n_flt, d->m_flt, d->flt); for (i = 0; i < d->n_flt; ++i) d->flt[i] = bcf_dec_int1(ptr, type, &ptr); } else ++ptr, d->n_flt = 0; b->unpack_size[2] = ptr - ptr_ori; b->unpacked |= BCF_UN_FLT; } if ((which&BCF_UN_INFO) && !(b->unpacked&BCF_UN_INFO)) { // INFO ptr = (uint8_t*)b->shared.s + b->unpack_size[0] + b->unpack_size[1] + b->unpack_size[2]; hts_expand(bcf_info_t, b->n_info, d->m_info, d->info); for (i = 0; i < d->m_info; ++i) d->info[i].vptr_free = 0; for (i = 0; i < b->n_info; ++i) ptr = bcf_unpack_info_core1(ptr, &d->info[i]); b->unpacked |= BCF_UN_INFO; } if ((which&BCF_UN_FMT) && b->n_sample && !(b->unpacked&BCF_UN_FMT)) { // FORMAT ptr = (uint8_t*)b->indiv.s; hts_expand(bcf_fmt_t, b->n_fmt, d->m_fmt, d->fmt); for (i = 0; i < d->m_fmt; ++i) d->fmt[i].p_free = 0; for (i = 0; i < b->n_fmt; ++i) ptr = bcf_unpack_fmt_core1(ptr, b->n_sample, &d->fmt[i]); b->unpacked |= BCF_UN_FMT; } return 0; } int vcf_format(const bcf_hdr_t *h, const bcf1_t *v, kstring_t *s) { int i; bcf_unpack((bcf1_t*)v, BCF_UN_ALL); kputs(h->id[BCF_DT_CTG][v->rid].key, s); // CHROM kputc('\t', s); kputw(v->pos + 1, s); // POS kputc('\t', s); kputs(v->d.id ? v->d.id : ".", s); // ID kputc('\t', s); // REF if (v->n_allele > 0) kputs(v->d.allele[0], s); else kputc('.', s); kputc('\t', s); // ALT if (v->n_allele > 1) { for (i = 1; i < v->n_allele; ++i) { if (i > 1) kputc(',', s); kputs(v->d.allele[i], s); } } else kputc('.', s); kputc('\t', s); // QUAL if ( bcf_float_is_missing(v->qual) ) kputc('.', s); // QUAL else ksprintf(s, "%g", v->qual); kputc('\t', s); // FILTER if (v->d.n_flt) { for (i = 0; i < v->d.n_flt; ++i) { if (i) kputc(';', s); kputs(h->id[BCF_DT_ID][v->d.flt[i]].key, s); } } else kputc('.', s); kputc('\t', s); // INFO if (v->n_info) { int first = 1; for (i = 0; i < v->n_info; ++i) { bcf_info_t *z = &v->d.info[i]; if ( !z->vptr ) continue; if ( !first ) kputc(';', s); first = 0; kputs(h->id[BCF_DT_ID][z->key].key, s); if (z->len <= 0) continue; kputc('=', s); if (z->len == 1) { switch (z->type) { case BCF_BT_INT8: if ( z->v1.i==bcf_int8_missing ) kputc('.', s); else kputw(z->v1.i, s); break; case BCF_BT_INT16: if ( z->v1.i==bcf_int16_missing ) kputc('.', s); else kputw(z->v1.i, s); break; case BCF_BT_INT32: if ( z->v1.i==bcf_int32_missing ) kputc('.', s); else kputw(z->v1.i, s); break; case BCF_BT_FLOAT: if ( bcf_float_is_missing(z->v1.f) ) kputc('.', s); else ksprintf(s, "%g", z->v1.f); break; case BCF_BT_CHAR: kputc(z->v1.i, s); break; default: fprintf(stderr,"todo: type %d\n", z->type); exit(1); break; } } else bcf_fmt_array(s, z->len, z->type, z->vptr); } if ( first ) kputc('.', s); } else kputc('.', s); // FORMAT and individual information if (v->n_sample) { int i,j; if ( v->n_fmt) { int gt_i = -1; bcf_fmt_t *fmt = v->d.fmt; int first = 1; for (i = 0; i < (int)v->n_fmt; ++i) { if ( !fmt[i].p ) continue; kputc(!first ? ':' : '\t', s); first = 0; if ( fmt[i].id<0 ) //!bcf_hdr_idinfo_exists(h,BCF_HL_FMT,fmt[i].id) ) { fprintf(stderr, "[E::%s] invalid BCF, the FORMAT tag id=%d not present in the header.\n", __func__, fmt[i].id); abort(); } kputs(h->id[BCF_DT_ID][fmt[i].id].key, s); if (strcmp(h->id[BCF_DT_ID][fmt[i].id].key, "GT") == 0) gt_i = i; } if ( first ) kputs("\t.", s); for (j = 0; j < v->n_sample; ++j) { kputc('\t', s); first = 1; for (i = 0; i < (int)v->n_fmt; ++i) { bcf_fmt_t *f = &fmt[i]; if ( !f->p ) continue; if (!first) kputc(':', s); first = 0; if (gt_i == i) bcf_format_gt(f,j,s); else bcf_fmt_array(s, f->n, f->type, f->p + j * f->size); } if ( first ) kputc('.', s); } } else for (j=0; j<=v->n_sample; j++) kputs("\t.", s); } kputc('\n', s); return 0; } int vcf_write_line(htsFile *fp, kstring_t *line) { int ret; if ( line->s[line->l-1]!='\n' ) kputc('\n',line); if ( fp->format.compression!=no_compression ) ret = bgzf_write(fp->fp.bgzf, line->s, line->l); else ret = hwrite(fp->fp.hfile, line->s, line->l); return ret==line->l ? 0 : -1; } int vcf_write(htsFile *fp, const bcf_hdr_t *h, bcf1_t *v) { int ret; fp->line.l = 0; vcf_format1(h, v, &fp->line); if ( fp->format.compression!=no_compression ) ret = bgzf_write(fp->fp.bgzf, fp->line.s, fp->line.l); else ret = hwrite(fp->fp.hfile, fp->line.s, fp->line.l); return ret==fp->line.l ? 0 : -1; } /************************ * Data access routines * ************************/ int bcf_hdr_id2int(const bcf_hdr_t *h, int which, const char *id) { khint_t k; vdict_t *d = (vdict_t*)h->dict[which]; k = kh_get(vdict, d, id); return k == kh_end(d)? -1 : kh_val(d, k).id; } /******************** *** BCF indexing *** ********************/ hts_idx_t *bcf_index(htsFile *fp, int min_shift) { int n_lvls, i; bcf1_t *b; hts_idx_t *idx; bcf_hdr_t *h; int64_t max_len = 0, s; h = bcf_hdr_read(fp); if ( !h ) return NULL; int nids = 0; for (i = 0; i < h->n[BCF_DT_CTG]; ++i) { if ( !h->id[BCF_DT_CTG][i].val ) continue; if ( max_len < h->id[BCF_DT_CTG][i].val->info[0] ) max_len = h->id[BCF_DT_CTG][i].val->info[0]; nids++; } if ( !max_len ) max_len = ((int64_t)1<<31) - 1; // In case contig line is broken. max_len += 256; for (n_lvls = 0, s = 1<<min_shift; max_len > s; ++n_lvls, s <<= 3); idx = hts_idx_init(nids, HTS_FMT_CSI, bgzf_tell(fp->fp.bgzf), min_shift, n_lvls); b = bcf_init1(); while (bcf_read1(fp,h, b) >= 0) { int ret; ret = hts_idx_push(idx, b->rid, b->pos, b->pos + b->rlen, bgzf_tell(fp->fp.bgzf), 1); if (ret < 0) { bcf_destroy1(b); hts_idx_destroy(idx); return NULL; } } hts_idx_finish(idx, bgzf_tell(fp->fp.bgzf)); bcf_destroy1(b); bcf_hdr_destroy(h); return idx; } int bcf_index_build(const char *fn, int min_shift) { htsFile *fp; hts_idx_t *idx; if ((fp = hts_open(fn, "rb")) == 0) return -1; if ( fp->format.compression!=bgzf ) { hts_close(fp); return -1; } idx = bcf_index(fp, min_shift); hts_close(fp); if ( !idx ) return -1; hts_idx_save(idx, fn, HTS_FMT_CSI); hts_idx_destroy(idx); return 0; } /***************** *** Utilities *** *****************/ int bcf_hdr_combine(bcf_hdr_t *dst, const bcf_hdr_t *src) { int i, ndst_ori = dst->nhrec, need_sync = 0, ret = 0; for (i=0; i<src->nhrec; i++) { if ( src->hrec[i]->type==BCF_HL_GEN && src->hrec[i]->value ) { int j; for (j=0; j<ndst_ori; j++) { if ( dst->hrec[j]->type!=BCF_HL_GEN ) continue; // Checking only the key part of generic lines, otherwise // the VCFs are too verbose. Should we perhaps add a flag // to bcf_hdr_combine() and make this optional? if ( !strcmp(src->hrec[i]->key,dst->hrec[j]->key) ) break; } if ( j>=ndst_ori ) need_sync += bcf_hdr_add_hrec(dst, bcf_hrec_dup(src->hrec[i])); } else if ( src->hrec[i]->type==BCF_HL_STR ) { // NB: we are ignoring fields without ID int j = bcf_hrec_find_key(src->hrec[i],"ID"); if ( j>=0 ) { bcf_hrec_t *rec = bcf_hdr_get_hrec(dst, src->hrec[i]->type, "ID", src->hrec[i]->vals[j], src->hrec[i]->key); if ( !rec ) need_sync += bcf_hdr_add_hrec(dst, bcf_hrec_dup(src->hrec[i])); } } else { int j = bcf_hrec_find_key(src->hrec[i],"ID"); assert( j>=0 ); // this should always be true for valid VCFs bcf_hrec_t *rec = bcf_hdr_get_hrec(dst, src->hrec[i]->type, "ID", src->hrec[i]->vals[j], NULL); if ( !rec ) need_sync += bcf_hdr_add_hrec(dst, bcf_hrec_dup(src->hrec[i])); else if ( src->hrec[i]->type==BCF_HL_INFO || src->hrec[i]->type==BCF_HL_FMT ) { // Check that both records are of the same type. The bcf_hdr_id2length // macro cannot be used here because dst header is not synced yet. vdict_t *d_src = (vdict_t*)src->dict[BCF_DT_ID]; vdict_t *d_dst = (vdict_t*)dst->dict[BCF_DT_ID]; khint_t k_src = kh_get(vdict, d_src, src->hrec[i]->vals[0]); khint_t k_dst = kh_get(vdict, d_dst, src->hrec[i]->vals[0]); if ( (kh_val(d_src,k_src).info[rec->type]>>8 & 0xf) != (kh_val(d_dst,k_dst).info[rec->type]>>8 & 0xf) ) { fprintf(stderr,"Warning: trying to combine \"%s\" tag definitions of different lengths\n", src->hrec[i]->vals[0]); ret |= 1; } if ( (kh_val(d_src,k_src).info[rec->type]>>4 & 0xf) != (kh_val(d_dst,k_dst).info[rec->type]>>4 & 0xf) ) { fprintf(stderr,"Warning: trying to combine \"%s\" tag definitions of different types\n", src->hrec[i]->vals[0]); ret |= 1; } } } } if ( need_sync ) bcf_hdr_sync(dst); return ret; } int bcf_translate(const bcf_hdr_t *dst_hdr, bcf_hdr_t *src_hdr, bcf1_t *line) { int i; if ( line->errcode ) { fprintf(stderr,"[%s:%d %s] Unchecked error (%d), exiting.\n", __FILE__,__LINE__,__FUNCTION__,line->errcode); exit(1); } if ( src_hdr->ntransl==-1 ) return 0; // no need to translate, all tags have the same id if ( !src_hdr->ntransl ) // called for the first time, see what needs translating { int dict; for (dict=0; dict<2; dict++) // BCF_DT_ID and BCF_DT_CTG { src_hdr->transl[dict] = (int*) malloc(src_hdr->n[dict]*sizeof(int)); for (i=0; i<src_hdr->n[dict]; i++) { if ( !src_hdr->id[dict][i].key || !dst_hdr->id[dict][i].key ) // gap left after removed BCF header lines src_hdr->transl[dict][i] = -1; else if ( i>=dst_hdr->n[dict] || strcmp(src_hdr->id[dict][i].key,dst_hdr->id[dict][i].key) ) { src_hdr->transl[dict][i] = bcf_hdr_id2int(dst_hdr,dict,src_hdr->id[dict][i].key); src_hdr->ntransl++; } else src_hdr->transl[dict][i] = -1; } } if ( !src_hdr->ntransl ) { free(src_hdr->transl[0]); src_hdr->transl[0] = NULL; free(src_hdr->transl[1]); src_hdr->transl[1] = NULL; src_hdr->ntransl = -1; } if ( src_hdr->ntransl==-1 ) return 0; } bcf_unpack(line,BCF_UN_ALL); // CHROM if ( src_hdr->transl[BCF_DT_CTG][line->rid] >=0 ) line->rid = src_hdr->transl[BCF_DT_CTG][line->rid]; // FILTER for (i=0; i<line->d.n_flt; i++) { int src_id = line->d.flt[i]; if ( src_hdr->transl[BCF_DT_ID][src_id] >=0 ) line->d.flt[i] = src_hdr->transl[BCF_DT_ID][src_id]; line->d.shared_dirty |= BCF1_DIRTY_FLT; } // INFO for (i=0; i<line->n_info; i++) { int src_id = line->d.info[i].key; int dst_id = src_hdr->transl[BCF_DT_ID][src_id]; if ( dst_id<0 ) continue; int src_size = src_id>>7 ? ( src_id>>15 ? BCF_BT_INT32 : BCF_BT_INT16) : BCF_BT_INT8; int dst_size = dst_id>>7 ? ( dst_id>>15 ? BCF_BT_INT32 : BCF_BT_INT16) : BCF_BT_INT8; if ( src_size==dst_size ) // can overwrite { line->d.info[i].key = dst_id; uint8_t *vptr = line->d.info[i].vptr - line->d.info[i].vptr_off; if ( dst_size==BCF_BT_INT8 ) { vptr[1] = (uint8_t)dst_id; } else if ( dst_size==BCF_BT_INT16 ) { *(uint16_t*)vptr = (uint16_t)dst_id; } else { *(uint32_t*)vptr = (uint32_t)dst_id; } } else // must realloc { bcf_info_t *info = &line->d.info[i]; assert( !info->vptr_free ); kstring_t str = {0,0,0}; bcf_enc_int1(&str, dst_id); bcf_enc_size(&str, info->len,info->type); info->vptr_off = str.l; kputsn((char*)info->vptr, info->vptr_len, &str); info->vptr = (uint8_t*)str.s + info->vptr_off; info->vptr_free = 1; info->key = dst_id; line->d.shared_dirty |= BCF1_DIRTY_INF; } } // FORMAT for (i=0; i<line->n_fmt; i++) { int src_id = line->d.fmt[i].id; int dst_id = src_hdr->transl[BCF_DT_ID][src_id]; if ( dst_id<0 ) continue; int src_size = src_id>>7 ? ( src_id>>15 ? BCF_BT_INT32 : BCF_BT_INT16) : BCF_BT_INT8; int dst_size = dst_id>>7 ? ( dst_id>>15 ? BCF_BT_INT32 : BCF_BT_INT16) : BCF_BT_INT8; if ( src_size==dst_size ) // can overwrite { line->d.fmt[i].id = dst_id; uint8_t *p = line->d.fmt[i].p - line->d.fmt[i].p_off; // pointer to the vector size (4bits) and BT type (4bits) if ( dst_size==BCF_BT_INT8 ) { p[1] = dst_id; } else if ( dst_size==BCF_BT_INT16 ) { uint8_t *x = (uint8_t*) &dst_id; p[1] = x[0]; p[2] = x[1]; } else { uint8_t *x = (uint8_t*) &dst_id; p[1] = x[0]; p[2] = x[1]; p[3] = x[2]; p[4] = x[3]; } } else // must realloc { bcf_fmt_t *fmt = &line->d.fmt[i]; assert( !fmt->p_free ); kstring_t str = {0,0,0}; bcf_enc_int1(&str, dst_id); bcf_enc_size(&str, fmt->n, fmt->type); fmt->p_off = str.l; kputsn((char*)fmt->p, fmt->p_len, &str); fmt->p = (uint8_t*)str.s + fmt->p_off; fmt->p_free = 1; fmt->id = dst_id; line->d.indiv_dirty = 1; } } return 0; } bcf_hdr_t *bcf_hdr_dup(const bcf_hdr_t *hdr) { bcf_hdr_t *hout = bcf_hdr_init("r"); char *htxt = bcf_hdr_fmt_text(hdr, 1, NULL); bcf_hdr_parse(hout, htxt); free(htxt); return hout; } bcf_hdr_t *bcf_hdr_subset(const bcf_hdr_t *h0, int n, char *const* samples, int *imap) { int hlen; void *names_hash = khash_str2int_init(); char *htxt = bcf_hdr_fmt_text(h0, 1, &hlen); kstring_t str; bcf_hdr_t *h; str.l = str.m = 0; str.s = 0; h = bcf_hdr_init("w"); bcf_hdr_set_version(h,bcf_hdr_get_version(h0)); int j; for (j=0; j<n; j++) imap[j] = -1; if ( bcf_hdr_nsamples(h0) > 0) { char *p; int i = 0, end = n? 8 : 7; while ((p = strstr(htxt, "#CHROM\t")) != 0) if (p > htxt && *(p-1) == '\n') break; while ((p = strchr(p, '\t')) != 0 && i < end) ++i, ++p; if (i != end) { free(h); free(str.s); return 0; // malformated header } kputsn(htxt, p - htxt, &str); for (i = 0; i < n; ++i) { if ( khash_str2int_has_key(names_hash,samples[i]) ) { fprintf(stderr,"[E::bcf_hdr_subset] Duplicate sample name \"%s\".\n", samples[i]); free(str.s); free(htxt); khash_str2int_destroy(names_hash); bcf_hdr_destroy(h); return NULL; } imap[i] = bcf_hdr_id2int(h0, BCF_DT_SAMPLE, samples[i]); if (imap[i] < 0) continue; kputc('\t', &str); kputs(samples[i], &str); khash_str2int_inc(names_hash,samples[i]); } } else kputsn(htxt, hlen, &str); while (str.l && (!str.s[str.l-1] || str.s[str.l-1]=='\n') ) str.l--; // kill trailing zeros and newlines kputc('\n',&str); bcf_hdr_parse(h, str.s); free(str.s); free(htxt); khash_str2int_destroy(names_hash); return h; } int bcf_hdr_set_samples(bcf_hdr_t *hdr, const char *samples, int is_file) { if ( samples && !strcmp("-",samples) ) return 0; // keep all samples hdr->nsamples_ori = bcf_hdr_nsamples(hdr); if ( !samples ) { bcf_hdr_nsamples(hdr) = 0; return 0; } // exclude all samples int i, narr = bit_array_size(bcf_hdr_nsamples(hdr)); hdr->keep_samples = (uint8_t*) calloc(narr,1); if ( samples[0]=='^' ) for (i=0; i<bcf_hdr_nsamples(hdr); i++) bit_array_set(hdr->keep_samples,i); int idx, n, ret = 0; char **smpls = hts_readlist(samples[0]=='^'?samples+1:samples, is_file, &n); if ( !smpls ) return -1; for (i=0; i<n; i++) { idx = bcf_hdr_id2int(hdr,BCF_DT_SAMPLE,smpls[i]); if ( idx<0 ) { if ( !ret ) ret = i+1; continue; } assert( idx<bcf_hdr_nsamples(hdr) ); if ( samples[0]=='^' ) bit_array_clear(hdr->keep_samples, idx); else bit_array_set(hdr->keep_samples, idx); } for (i=0; i<n; i++) free(smpls[i]); free(smpls); bcf_hdr_nsamples(hdr) = 0; for (i=0; i<hdr->nsamples_ori; i++) if ( bit_array_test(hdr->keep_samples,i) ) bcf_hdr_nsamples(hdr)++; if ( !bcf_hdr_nsamples(hdr) ) { free(hdr->keep_samples); hdr->keep_samples=NULL; } else { char **samples = (char**) malloc(sizeof(char*)*bcf_hdr_nsamples(hdr)); idx = 0; for (i=0; i<hdr->nsamples_ori; i++) if ( bit_array_test(hdr->keep_samples,i) ) samples[idx++] = strdup(hdr->samples[i]); free(hdr->samples); hdr->samples = samples; // delete original samples from the dictionary vdict_t *d = (vdict_t*)hdr->dict[BCF_DT_SAMPLE]; int k; for (k = kh_begin(d); k != kh_end(d); ++k) if (kh_exist(d, k)) free((char*)kh_key(d, k)); kh_destroy(vdict, d); // add the subset back hdr->dict[BCF_DT_SAMPLE] = d = kh_init(vdict); for (i=0; i<bcf_hdr_nsamples(hdr); i++) { int ignore, k = kh_put(vdict, d, hdr->samples[i], &ignore); kh_val(d, k) = bcf_idinfo_def; kh_val(d, k).id = kh_size(d) - 1; } bcf_hdr_sync(hdr); } return ret; } int bcf_subset(const bcf_hdr_t *h, bcf1_t *v, int n, int *imap) { kstring_t ind; ind.s = 0; ind.l = ind.m = 0; if (n) { bcf_fmt_t *fmt; int i, j; fmt = (bcf_fmt_t*)alloca(v->n_fmt * sizeof(bcf_fmt_t)); uint8_t *ptr = (uint8_t*)v->indiv.s; for (i = 0; i < v->n_fmt; ++i) ptr = bcf_unpack_fmt_core1(ptr, v->n_sample, &fmt[i]); for (i = 0; i < (int)v->n_fmt; ++i) { bcf_fmt_t *f = &fmt[i]; bcf_enc_int1(&ind, f->id); bcf_enc_size(&ind, f->n, f->type); for (j = 0; j < n; ++j) if (imap[j] >= 0) kputsn((char*)(f->p + imap[j] * f->size), f->size, &ind); } for (i = j = 0; j < n; ++j) if (imap[j] >= 0) ++i; v->n_sample = i; } else v->n_sample = 0; if ( !v->n_sample ) v->n_fmt = 0; free(v->indiv.s); v->indiv = ind; v->unpacked &= ~BCF_UN_FMT; // only BCF is ready for output, VCF will need to unpack again return 0; } int bcf_is_snp(bcf1_t *v) { int i; bcf_unpack(v, BCF_UN_STR); for (i = 0; i < v->n_allele; ++i) { if ( v->d.allele[i][1]==0 ) continue; // mpileup's <X> allele, see also below. This is not completely satisfactory, // a general library is here narrowly tailored to fit samtools. if ( v->d.allele[i][0]=='<' && v->d.allele[i][1]=='X' && v->d.allele[i][2]=='>' ) continue; break; } return i == v->n_allele; } static void bcf_set_variant_type(const char *ref, const char *alt, variant_t *var) { // The most frequent case if ( !ref[1] && !alt[1] ) { if ( *alt == '.' || *ref==*alt ) { var->n = 0; var->type = VCF_REF; return; } if ( *alt == 'X' ) { var->n = 0; var->type = VCF_REF; return; } // mpileup's X allele shouldn't be treated as variant var->n = 1; var->type = VCF_SNP; return; } if ( alt[0]=='<' ) { if ( alt[1]=='X' && alt[2]=='>' ) { var->n = 0; var->type = VCF_REF; return; } // mpileup's X allele shouldn't be treated as variant var->type = VCF_OTHER; return; } const char *r = ref, *a = alt; while (*r && *a && *r==*a ) { r++; a++; } if ( *a && !*r ) { while ( *a ) a++; var->n = (a-alt)-(r-ref); var->type = VCF_INDEL; return; } else if ( *r && !*a ) { while ( *r ) r++; var->n = (a-alt)-(r-ref); var->type = VCF_INDEL; return; } else if ( !*r && !*a ) { var->n = 0; var->type = VCF_REF; return; } const char *re = r, *ae = a; while ( re[1] ) re++; while ( ae[1] ) ae++; while ( *re==*ae && re>r && ae>a ) { re--; ae--; } if ( ae==a ) { if ( re==r ) { var->n = 1; var->type = VCF_SNP; return; } var->n = -(re-r); if ( *re==*ae ) { var->type = VCF_INDEL; return; } var->type = VCF_OTHER; return; } else if ( re==r ) { var->n = ae-a; if ( *re==*ae ) { var->type = VCF_INDEL; return; } var->type = VCF_OTHER; return; } var->type = ( re-r == ae-a ) ? VCF_MNP : VCF_OTHER; var->n = ( re-r > ae-a ) ? -(re-r+1) : ae-a+1; // should do also complex events, SVs, etc... } static void bcf_set_variant_types(bcf1_t *b) { if ( !(b->unpacked & BCF_UN_STR) ) bcf_unpack(b, BCF_UN_STR); bcf_dec_t *d = &b->d; if ( d->n_var < b->n_allele ) { d->var = (variant_t *) realloc(d->var, sizeof(variant_t)*b->n_allele); d->n_var = b->n_allele; } int i; b->d.var_type = 0; for (i=1; i<b->n_allele; i++) { bcf_set_variant_type(d->allele[0],d->allele[i], &d->var[i]); b->d.var_type |= d->var[i].type; //fprintf(stderr,"[set_variant_type] %d %s %s -> %d %d .. %d\n", b->pos+1,d->allele[0],d->allele[i],d->var[i].type,d->var[i].n, b->d.var_type); } } int bcf_get_variant_types(bcf1_t *rec) { if ( rec->d.var_type==-1 ) bcf_set_variant_types(rec); return rec->d.var_type; } int bcf_get_variant_type(bcf1_t *rec, int ith_allele) { if ( rec->d.var_type==-1 ) bcf_set_variant_types(rec); return rec->d.var[ith_allele].type; } int bcf_update_info(const bcf_hdr_t *hdr, bcf1_t *line, const char *key, const void *values, int n, int type) { // Is the field already present? int i, inf_id = bcf_hdr_id2int(hdr,BCF_DT_ID,key); if ( !bcf_hdr_idinfo_exists(hdr,BCF_HL_INFO,inf_id) ) return -1; // No such INFO field in the header if ( !(line->unpacked & BCF_UN_INFO) ) bcf_unpack(line, BCF_UN_INFO); for (i=0; i<line->n_info; i++) if ( inf_id==line->d.info[i].key ) break; bcf_info_t *inf = i==line->n_info ? NULL : &line->d.info[i]; if ( !n || (type==BCF_HT_STR && !values) ) { if ( inf ) { // Mark the tag for removal, free existing memory if necessary if ( inf->vptr_free ) { free(inf->vptr - inf->vptr_off); inf->vptr_free = 0; } line->d.shared_dirty |= BCF1_DIRTY_INF; inf->vptr = NULL; } return 0; } // Encode the values and determine the size required to accommodate the values kstring_t str = {0,0,0}; bcf_enc_int1(&str, inf_id); if ( type==BCF_HT_INT ) bcf_enc_vint(&str, n, (int32_t*)values, -1); else if ( type==BCF_HT_REAL ) bcf_enc_vfloat(&str, n, (float*)values); else if ( type==BCF_HT_FLAG || type==BCF_HT_STR ) { if ( values==NULL ) bcf_enc_size(&str, 0, BCF_BT_NULL); else bcf_enc_vchar(&str, strlen((char*)values), (char*)values); } else { fprintf(stderr, "[E::%s] the type %d not implemented yet\n", __func__, type); abort(); } // Is the INFO tag already present if ( inf ) { // Is it big enough to accommodate new block? if ( str.l <= inf->vptr_len + inf->vptr_off ) { if ( str.l != inf->vptr_len + inf->vptr_off ) line->d.shared_dirty |= BCF1_DIRTY_INF; uint8_t *ptr = inf->vptr - inf->vptr_off; memcpy(ptr, str.s, str.l); free(str.s); int vptr_free = inf->vptr_free; bcf_unpack_info_core1(ptr, inf); inf->vptr_free = vptr_free; } else { assert( !inf->vptr_free ); // fix the caller or improve here: this has been modified before bcf_unpack_info_core1((uint8_t*)str.s, inf); inf->vptr_free = 1; line->d.shared_dirty |= BCF1_DIRTY_INF; } } else { // The tag is not present, create new one line->n_info++; hts_expand0(bcf_info_t, line->n_info, line->d.m_info , line->d.info); inf = &line->d.info[line->n_info-1]; bcf_unpack_info_core1((uint8_t*)str.s, inf); inf->vptr_free = 1; line->d.shared_dirty |= BCF1_DIRTY_INF; } line->unpacked |= BCF_UN_INFO; return 0; } int bcf_update_format_string(const bcf_hdr_t *hdr, bcf1_t *line, const char *key, const char **values, int n) { if ( !n ) return bcf_update_format(hdr,line,key,NULL,0,BCF_HT_STR); int i, max_len = 0; for (i=0; i<n; i++) { int len = strlen(values[i]); if ( len > max_len ) max_len = len; } char *out = (char*) malloc(max_len*n); if ( !out ) return -2; for (i=0; i<n; i++) { char *dst = out+i*max_len; const char *src = values[i]; int j = 0; while ( src[j] ) { dst[j] = src[j]; j++; } for (; j<max_len; j++) dst[j] = 0; } int ret = bcf_update_format(hdr,line,key,out,max_len*n,BCF_HT_STR); free(out); return ret; } int bcf_update_format(const bcf_hdr_t *hdr, bcf1_t *line, const char *key, const void *values, int n, int type) { // Is the field already present? int i, fmt_id = bcf_hdr_id2int(hdr,BCF_DT_ID,key); if ( !bcf_hdr_idinfo_exists(hdr,BCF_HL_FMT,fmt_id) ) { if ( !n ) return 0; return -1; // the key not present in the header } if ( !(line->unpacked & BCF_UN_FMT) ) bcf_unpack(line, BCF_UN_FMT); for (i=0; i<line->n_fmt; i++) if ( line->d.fmt[i].id==fmt_id ) break; bcf_fmt_t *fmt = i==line->n_fmt ? NULL : &line->d.fmt[i]; if ( !n ) { if ( fmt ) { // Mark the tag for removal, free existing memory if necessary if ( fmt->p_free ) { free(fmt->p - fmt->p_off); fmt->p_free = 0; } line->d.indiv_dirty = 1; fmt->p = NULL; } return 0; } line->n_sample = bcf_hdr_nsamples(hdr); int nps = n / line->n_sample; // number of values per sample assert( nps && nps*line->n_sample==n ); // must be divisible by n_sample // Encode the values and determine the size required to accommodate the values kstring_t str = {0,0,0}; bcf_enc_int1(&str, fmt_id); if ( type==BCF_HT_INT ) bcf_enc_vint(&str, n, (int32_t*)values, nps); else if ( type==BCF_HT_REAL ) { bcf_enc_size(&str, nps, BCF_BT_FLOAT); kputsn((char*)values, nps*line->n_sample*sizeof(float), &str); } else if ( type==BCF_HT_STR ) { bcf_enc_size(&str, nps, BCF_BT_CHAR); kputsn((char*)values, nps*line->n_sample, &str); } else { fprintf(stderr, "[E::%s] the type %d not implemented yet\n", __func__, type); abort(); } if ( !fmt ) { // Not present, new format field line->n_fmt++; hts_expand0(bcf_fmt_t, line->n_fmt, line->d.m_fmt, line->d.fmt); // Special case: VCF specification requires that GT is always first if ( line->n_fmt > 1 && key[0]=='G' && key[1]=='T' && !key[2] ) { for (i=line->n_fmt-1; i>0; i--) line->d.fmt[i] = line->d.fmt[i-1]; fmt = &line->d.fmt[0]; } else fmt = &line->d.fmt[line->n_fmt-1]; bcf_unpack_fmt_core1((uint8_t*)str.s, line->n_sample, fmt); line->d.indiv_dirty = 1; fmt->p_free = 1; } else { // The tag is already present, check if it is big enough to accomodate the new block if ( str.l <= fmt->p_len + fmt->p_off ) { // good, the block is big enough if ( str.l != fmt->p_len + fmt->p_off ) line->d.indiv_dirty = 1; uint8_t *ptr = fmt->p - fmt->p_off; memcpy(ptr, str.s, str.l); free(str.s); int p_free = fmt->p_free; bcf_unpack_fmt_core1(ptr, line->n_sample, fmt); fmt->p_free = p_free; } else { assert( !fmt->p_free ); // fix the caller or improve here: this has been modified before bcf_unpack_fmt_core1((uint8_t*)str.s, line->n_sample, fmt); fmt->p_free = 1; line->d.indiv_dirty = 1; } } line->unpacked |= BCF_UN_FMT; return 0; } int bcf_update_filter(const bcf_hdr_t *hdr, bcf1_t *line, int *flt_ids, int n) { if ( !(line->unpacked & BCF_UN_FLT) ) bcf_unpack(line, BCF_UN_FLT); line->d.shared_dirty |= BCF1_DIRTY_FLT; line->d.n_flt = n; if ( !n ) return 0; hts_expand(int, line->d.n_flt, line->d.m_flt, line->d.flt); int i; for (i=0; i<n; i++) line->d.flt[i] = flt_ids[i]; return 0; } int bcf_add_filter(const bcf_hdr_t *hdr, bcf1_t *line, int flt_id) { if ( !(line->unpacked & BCF_UN_FLT) ) bcf_unpack(line, BCF_UN_FLT); int i; for (i=0; i<line->d.n_flt; i++) if ( flt_id==line->d.flt[i] ) break; if ( i<line->d.n_flt ) return 0; // this filter is already set line->d.shared_dirty |= BCF1_DIRTY_FLT; if ( flt_id==0 ) // set to PASS line->d.n_flt = 1; else if ( line->d.n_flt==1 && line->d.flt[0]==0 ) line->d.n_flt = 1; else line->d.n_flt++; hts_expand(int, line->d.n_flt, line->d.m_flt, line->d.flt); line->d.flt[line->d.n_flt-1] = flt_id; return 1; } int bcf_remove_filter(const bcf_hdr_t *hdr, bcf1_t *line, int flt_id, int pass) { if ( !(line->unpacked & BCF_UN_FLT) ) bcf_unpack(line, BCF_UN_FLT); int i; for (i=0; i<line->d.n_flt; i++) if ( flt_id==line->d.flt[i] ) break; if ( i==line->d.n_flt ) return 0; // the filter is not present line->d.shared_dirty |= BCF1_DIRTY_FLT; if ( i!=line->d.n_flt-1 ) memmove(line->d.flt+i,line->d.flt+i+1,(line->d.n_flt-i-1)*sizeof(*line->d.flt)); line->d.n_flt--; if ( !line->d.n_flt && pass ) bcf_add_filter(hdr,line,0); return 0; } int bcf_has_filter(const bcf_hdr_t *hdr, bcf1_t *line, char *filter) { if ( filter[0]=='.' && !filter[1] ) filter = "PASS"; int id = bcf_hdr_id2int(hdr, BCF_DT_ID, filter); if ( !bcf_hdr_idinfo_exists(hdr,BCF_HL_FLT,id) ) return -1; // not defined in the header if ( !(line->unpacked & BCF_UN_FLT) ) bcf_unpack(line, BCF_UN_FLT); if ( id==0 && !line->d.n_flt) return 1; // PASS int i; for (i=0; i<line->d.n_flt; i++) if ( line->d.flt[i]==id ) return 1; return 0; } static inline int _bcf1_sync_alleles(const bcf_hdr_t *hdr, bcf1_t *line, int nals) { line->d.shared_dirty |= BCF1_DIRTY_ALS; line->n_allele = nals; hts_expand(char*, line->n_allele, line->d.m_allele, line->d.allele); char *als = line->d.als; int n = 0; while (n<nals) { line->d.allele[n] = als; while ( *als ) als++; als++; n++; } return 0; } int bcf_update_alleles(const bcf_hdr_t *hdr, bcf1_t *line, const char **alleles, int nals) { kstring_t tmp = {0,0,0}; char *free_old = NULL; // If the supplied alleles are not pointers to line->d.als, the existing block can be reused. int i; for (i=0; i<nals; i++) if ( alleles[i]>=line->d.als && alleles[i]<line->d.als+line->d.m_als ) break; if ( i==nals ) { // all alleles point elsewhere, reuse the existing block tmp.l = 0; tmp.s = line->d.als; tmp.m = line->d.m_als; } else free_old = line->d.als; for (i=0; i<nals; i++) { kputs(alleles[i], &tmp); kputc(0, &tmp); } line->d.als = tmp.s; line->d.m_als = tmp.m; free(free_old); return _bcf1_sync_alleles(hdr,line,nals); } int bcf_update_alleles_str(const bcf_hdr_t *hdr, bcf1_t *line, const char *alleles_string) { kstring_t tmp; tmp.l = 0; tmp.s = line->d.als; tmp.m = line->d.m_als; kputs(alleles_string, &tmp); line->d.als = tmp.s; line->d.m_als = tmp.m; int nals = 1; char *t = line->d.als; while (*t) { if ( *t==',' ) { *t = 0; nals++; } t++; } return _bcf1_sync_alleles(hdr, line, nals); } int bcf_update_id(const bcf_hdr_t *hdr, bcf1_t *line, const char *id) { kstring_t tmp; tmp.l = 0; tmp.s = line->d.id; tmp.m = line->d.m_id; if ( id ) kputs(id, &tmp); else kputs(".", &tmp); line->d.id = tmp.s; line->d.m_id = tmp.m; line->d.shared_dirty |= BCF1_DIRTY_ID; return 0; } bcf_fmt_t *bcf_get_fmt(const bcf_hdr_t *hdr, bcf1_t *line, const char *key) { int id = bcf_hdr_id2int(hdr, BCF_DT_ID, key); if ( !bcf_hdr_idinfo_exists(hdr,BCF_HL_FMT,id) ) return NULL; // no such FMT field in the header return bcf_get_fmt_id(line, id); } bcf_info_t *bcf_get_info(const bcf_hdr_t *hdr, bcf1_t *line, const char *key) { int id = bcf_hdr_id2int(hdr, BCF_DT_ID, key); if ( !bcf_hdr_idinfo_exists(hdr,BCF_HL_INFO,id) ) return NULL; // no such INFO field in the header return bcf_get_info_id(line, id); } bcf_fmt_t *bcf_get_fmt_id(bcf1_t *line, const int id) { int i; if ( !(line->unpacked & BCF_UN_FMT) ) bcf_unpack(line, BCF_UN_FMT); for (i=0; i<line->n_fmt; i++) { if ( line->d.fmt[i].id==id ) return &line->d.fmt[i]; } return NULL; } bcf_info_t *bcf_get_info_id(bcf1_t *line, const int id) { int i; if ( !(line->unpacked & BCF_UN_INFO) ) bcf_unpack(line, BCF_UN_INFO); for (i=0; i<line->n_info; i++) { if ( line->d.info[i].key==id ) return &line->d.info[i]; } return NULL; } int bcf_get_info_values(const bcf_hdr_t *hdr, bcf1_t *line, const char *tag, void **dst, int *ndst, int type) { int i,j, tag_id = bcf_hdr_id2int(hdr, BCF_DT_ID, tag); if ( !bcf_hdr_idinfo_exists(hdr,BCF_HL_INFO,tag_id) ) return -1; // no such INFO field in the header if ( bcf_hdr_id2type(hdr,BCF_HL_INFO,tag_id)!=type ) return -2; // expected different type if ( !(line->unpacked & BCF_UN_INFO) ) bcf_unpack(line, BCF_UN_INFO); for (i=0; i<line->n_info; i++) if ( line->d.info[i].key==tag_id ) break; if ( i==line->n_info ) return ( type==BCF_HT_FLAG ) ? 0 : -3; // the tag is not present in this record if ( type==BCF_HT_FLAG ) return 1; bcf_info_t *info = &line->d.info[i]; if ( type==BCF_HT_STR ) { if ( *ndst < info->len+1 ) { *ndst = info->len + 1; *dst = realloc(*dst, *ndst); } memcpy(*dst,info->vptr,info->len); ((uint8_t*)*dst)[info->len] = 0; return info->len; } // Make sure the buffer is big enough int size1 = type==BCF_HT_INT ? sizeof(int32_t) : sizeof(float); if ( *ndst < info->len ) { *ndst = info->len; *dst = realloc(*dst, *ndst * size1); } if ( info->len == 1 ) { if ( info->type==BCF_BT_FLOAT ) *((float*)*dst) = info->v1.f; else { #define BRANCH(type_t, missing) { \ if ( info->v1.i==missing ) *((int32_t*)*dst) = bcf_int32_missing; \ else *((int32_t*)*dst) = info->v1.i; \ } switch (info->type) { case BCF_BT_INT8: BRANCH(int8_t, bcf_int8_missing ); break; case BCF_BT_INT16: BRANCH(int16_t, bcf_int16_missing); break; case BCF_BT_INT32: BRANCH(int32_t, bcf_int32_missing); break; } #undef BRANCH } return 1; } #define BRANCH(type_t, is_missing, is_vector_end, set_missing, out_type_t) { \ out_type_t *tmp = (out_type_t *) *dst; \ type_t *p = (type_t *) info->vptr; \ for (j=0; j<info->len; j++) \ { \ if ( is_vector_end ) return j; \ if ( is_missing ) set_missing; \ else *tmp = p[j]; \ tmp++; \ } \ return j; \ } switch (info->type) { case BCF_BT_INT8: BRANCH(int8_t, p[j]==bcf_int8_missing, p[j]==bcf_int8_vector_end, *tmp=bcf_int32_missing, int32_t); break; case BCF_BT_INT16: BRANCH(int16_t, p[j]==bcf_int16_missing, p[j]==bcf_int16_vector_end, *tmp=bcf_int32_missing, int32_t); break; case BCF_BT_INT32: BRANCH(int32_t, p[j]==bcf_int32_missing, p[j]==bcf_int32_vector_end, *tmp=bcf_int32_missing, int32_t); break; case BCF_BT_FLOAT: BRANCH(float, bcf_float_is_missing(p[j]), bcf_float_is_vector_end(p[j]), bcf_float_set_missing(*tmp), float); break; default: fprintf(stderr,"TODO: %s:%d .. info->type=%d\n", __FILE__,__LINE__, info->type); exit(1); } #undef BRANCH return -4; // this can never happen } int bcf_get_format_string(const bcf_hdr_t *hdr, bcf1_t *line, const char *tag, char ***dst, int *ndst) { int i,tag_id = bcf_hdr_id2int(hdr, BCF_DT_ID, tag); if ( !bcf_hdr_idinfo_exists(hdr,BCF_HL_FMT,tag_id) ) return -1; // no such FORMAT field in the header if ( bcf_hdr_id2type(hdr,BCF_HL_FMT,tag_id)!=BCF_HT_STR ) return -2; // expected different type if ( !(line->unpacked & BCF_UN_FMT) ) bcf_unpack(line, BCF_UN_FMT); for (i=0; i<line->n_fmt; i++) if ( line->d.fmt[i].id==tag_id ) break; if ( i==line->n_fmt ) return -3; // the tag is not present in this record bcf_fmt_t *fmt = &line->d.fmt[i]; int nsmpl = bcf_hdr_nsamples(hdr); if ( !*dst ) { *dst = (char**) malloc(sizeof(char*)*nsmpl); if ( !*dst ) return -4; // could not alloc (*dst)[0] = NULL; } int n = (fmt->n+1)*nsmpl; if ( *ndst < n ) { (*dst)[0] = realloc((*dst)[0], n); if ( !(*dst)[0] ) return -4; // could not alloc *ndst = n; } for (i=0; i<nsmpl; i++) { uint8_t *src = fmt->p + i*fmt->n; uint8_t *tmp = (uint8_t*)(*dst)[0] + i*(fmt->n+1); memcpy(tmp,src,fmt->n); tmp[fmt->n] = 0; (*dst)[i] = (char*) tmp; } return n; } int bcf_get_format_values(const bcf_hdr_t *hdr, bcf1_t *line, const char *tag, void **dst, int *ndst, int type) { int i,j, tag_id = bcf_hdr_id2int(hdr, BCF_DT_ID, tag); if ( !bcf_hdr_idinfo_exists(hdr,BCF_HL_FMT,tag_id) ) return -1; // no such FORMAT field in the header if ( tag[0]=='G' && tag[1]=='T' && tag[2]==0 ) { // Ugly: GT field is considered to be a string by the VCF header but BCF represents it as INT. if ( bcf_hdr_id2type(hdr,BCF_HL_FMT,tag_id)!=BCF_HT_STR ) return -2; } else if ( bcf_hdr_id2type(hdr,BCF_HL_FMT,tag_id)!=type ) return -2; // expected different type if ( !(line->unpacked & BCF_UN_FMT) ) bcf_unpack(line, BCF_UN_FMT); for (i=0; i<line->n_fmt; i++) if ( line->d.fmt[i].id==tag_id ) break; if ( i==line->n_fmt ) return -3; // the tag is not present in this record bcf_fmt_t *fmt = &line->d.fmt[i]; if ( type==BCF_HT_STR ) { int n = fmt->n*bcf_hdr_nsamples(hdr); if ( *ndst < n ) { *dst = realloc(*dst, n); if ( !*dst ) return -4; // could not alloc *ndst = n; } memcpy(*dst,fmt->p,n); return n; } // Make sure the buffer is big enough int nsmpl = bcf_hdr_nsamples(hdr); int size1 = type==BCF_HT_INT ? sizeof(int32_t) : sizeof(float); if ( *ndst < fmt->n*nsmpl ) { *ndst = fmt->n*nsmpl; *dst = realloc(*dst, *ndst*size1); if ( !dst ) return -4; // could not alloc } #define BRANCH(type_t, is_missing, is_vector_end, set_missing, set_vector_end, out_type_t) { \ out_type_t *tmp = (out_type_t *) *dst; \ type_t *p = (type_t*) fmt->p; \ for (i=0; i<nsmpl; i++) \ { \ for (j=0; j<fmt->n; j++) \ { \ if ( is_missing ) set_missing; \ else if ( is_vector_end ) { set_vector_end; break; } \ else *tmp = p[j]; \ tmp++; \ } \ for (; j<fmt->n; j++) { set_vector_end; tmp++; } \ p = (type_t *)((char *)p + fmt->size); \ } \ } switch (fmt->type) { case BCF_BT_INT8: BRANCH(int8_t, p[j]==bcf_int8_missing, p[j]==bcf_int8_vector_end, *tmp=bcf_int32_missing, *tmp=bcf_int32_vector_end, int32_t); break; case BCF_BT_INT16: BRANCH(int16_t, p[j]==bcf_int16_missing, p[j]==bcf_int16_vector_end, *tmp=bcf_int32_missing, *tmp=bcf_int32_vector_end, int32_t); break; case BCF_BT_INT32: BRANCH(int32_t, p[j]==bcf_int32_missing, p[j]==bcf_int32_vector_end, *tmp=bcf_int32_missing, *tmp=bcf_int32_vector_end, int32_t); break; case BCF_BT_FLOAT: BRANCH(float, bcf_float_is_missing(p[j]), bcf_float_is_vector_end(p[j]), bcf_float_set_missing(*tmp), bcf_float_set_vector_end(*tmp), float); break; default: fprintf(stderr,"TODO: %s:%d .. fmt->type=%d\n", __FILE__,__LINE__, fmt->type); exit(1); } #undef BRANCH return nsmpl*fmt->n; }