Mercurial > repos > lsong10 > psiclass
diff PsiCLASS-1.0.2/samtools-0.1.19/misc/sam2vcf.pl @ 0:903fc43d6227 draft default tip
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author | lsong10 |
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date | Fri, 26 Mar 2021 16:52:45 +0000 |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/PsiCLASS-1.0.2/samtools-0.1.19/misc/sam2vcf.pl Fri Mar 26 16:52:45 2021 +0000 @@ -0,0 +1,270 @@ +#!/usr/bin/perl -w +# +# VCF specs: http://www.1000genomes.org/wiki/doku.php?id=1000_genomes:analysis:vcf3.3 +# +# Contact: pd3@sanger +# Version: 2010-04-23 + +use strict; +use warnings; +use Carp; + +my $opts = parse_params(); +do_pileup_to_vcf($opts); + +exit; + +#--------------- + +sub error +{ + my (@msg) = @_; + if ( scalar @msg ) { croak(@msg); } + die + "Usage: sam2vcf.pl [OPTIONS] < in.pileup > out.vcf\n", + "Options:\n", + " -h, -?, --help This help message.\n", + " -i, --indels-only Ignore SNPs.\n", + " -r, --refseq <file.fa> The reference sequence, required when indels are present.\n", + " -R, --keep-ref Print reference alleles as well.\n", + " -s, --snps-only Ignore indels.\n", + " -t, --column-title <string> The column title.\n", + "\n"; +} + + +sub parse_params +{ + my %opts = (); + + $opts{fh_in} = *STDIN; + $opts{fh_out} = *STDOUT; + + while (my $arg=shift(@ARGV)) + { + if ( $arg eq '-R' || $arg eq '--keep-ref' ) { $opts{keep_ref}=1; next; } + if ( $arg eq '-r' || $arg eq '--refseq' ) { $opts{refseq}=shift(@ARGV); next; } + if ( $arg eq '-t' || $arg eq '--column-title' ) { $opts{title}=shift(@ARGV); next; } + if ( $arg eq '-s' || $arg eq '--snps-only' ) { $opts{snps_only}=1; next; } + if ( $arg eq '-i' || $arg eq '--indels-only' ) { $opts{indels_only}=1; next; } + if ( $arg eq '-?' || $arg eq '-h' || $arg eq '--help' ) { error(); } + + error("Unknown parameter \"$arg\". Run -h for help.\n"); + } + return \%opts; +} + +sub iupac_to_gtype +{ + my ($ref,$base) = @_; + my %iupac = ( + 'K' => ['G','T'], + 'M' => ['A','C'], + 'S' => ['C','G'], + 'R' => ['A','G'], + 'W' => ['A','T'], + 'Y' => ['C','T'], + ); + if ( !exists($iupac{$base}) ) + { + if ( $base ne 'A' && $base ne 'C' && $base ne 'G' && $base ne 'T' ) { error("FIXME: what is this [$base]?\n"); } + if ( $ref eq $base ) { return ('.','0/0'); } + return ($base,'1/1'); + } + my $gt = $iupac{$base}; + if ( $$gt[0] eq $ref ) { return ($$gt[1],'0/1'); } + elsif ( $$gt[1] eq $ref ) { return ($$gt[0],'0/1'); } + return ("$$gt[0],$$gt[1]",'1/2'); +} + + +sub parse_indel +{ + my ($cons) = @_; + if ( $cons=~/^-/ ) + { + my $len = length($'); + return "D$len"; + } + elsif ( $cons=~/^\+/ ) { return "I$'"; } + elsif ( $cons eq '*' ) { return undef; } + error("FIXME: could not parse [$cons]\n"); +} + + +# An example of the pileup format: +# 1 3000011 C C 32 0 98 1 ^~, A +# 1 3002155 * +T/+T 53 119 52 5 +T * 4 1 0 +# 1 3003094 * -TT/-TT 31 164 60 11 -TT * 5 6 0 +# 1 3073986 * */-AAAAAAAAAAAAAA 3 3 45 9 * -AAAAAAAAAAAAAA 7 2 0 +# +sub do_pileup_to_vcf +{ + my ($opts) = @_; + + my $fh_in = $$opts{fh_in}; + my $fh_out = $$opts{fh_out}; + my ($prev_chr,$prev_pos,$prev_ref); + my $refseq; + my $ignore_indels = $$opts{snps_only} ? 1 : 0; + my $ignore_snps = $$opts{indels_only} ? 1 : 0; + my $keep_ref = $$opts{keep_ref} ? 1 : 0; + my $title = exists($$opts{title}) ? $$opts{title} : 'data'; + + print $fh_out + qq[##fileformat=VCFv3.3\n], + qq[##INFO=DP,1,Integer,"Total Depth"\n], + qq[##FORMAT=GT,1,String,"Genotype"\n], + qq[##FORMAT=GQ,1,Integer,"Genotype Quality"\n], + qq[##FORMAT=DP,1,Integer,"Read Depth"\n], + qq[#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO\tFORMAT\t$title\n] + ; + + while (my $line=<$fh_in>) + { + chomp($line); + my (@items) = split(/\t/,$line); + if ( scalar @items<8 ) + { + error("\nToo few columns, does not look like output of 'samtools pileup -c': $line\n"); + } + my ($chr,$pos,$ref,$cons,$cons_qual,$snp_qual,$rms_qual,$depth,$a1,$a2) = @items; + $ref = uc($ref); + $cons = uc($cons); + + my ($alt,$gt); + if ( $ref eq '*' ) + { + # An indel is involved. + if ( $ignore_indels ) + { + $prev_ref = $ref; + $prev_pos = $pos; + $prev_chr = $chr; + next; + } + + if (!defined $prev_chr || $chr ne $prev_chr || $pos ne $prev_pos) + { + if ( !$$opts{refseq} ) { error("Cannot do indels without the reference.\n"); } + if ( !$refseq ) { $refseq = Fasta->new(file=>$$opts{refseq}); } + $ref = $refseq->get_base($chr,$pos); + $ref = uc($ref); + } + else { $ref = $prev_ref; } + + # One of the alleles can be a reference and it can come in arbitrary order. In some + # cases */* can be encountered. In such a case, look in the additional columns. + my ($al1,$al2) = split(m{/},$cons); + if ( $al1 eq $al2 && $al1 eq '*' ) { $al1=$a1; $al2=$a2; } + my $alt1 = parse_indel($al1); + my $alt2 = parse_indel($al2); + if ( !$alt1 && !$alt2 ) { error("FIXME: could not parse indel:\n", $line); } + if ( !$alt1 ) + { + $alt=$alt2; + $gt='0/1'; + } + elsif ( !$alt2 ) + { + $alt=$alt1; + $gt='0/1'; + } + elsif ( $alt1 eq $alt2 ) + { + $alt="$alt1"; + $gt='1/1'; + } + else + { + $alt="$alt1,$alt2"; + $gt='1/2'; + } + } + else + { + if ( $ignore_snps || (!$keep_ref && $ref eq $cons) ) + { + $prev_ref = $ref; + $prev_pos = $pos; + $prev_chr = $chr; + next; + } + + # SNP + ($alt,$gt) = iupac_to_gtype($ref,$cons); + } + + print $fh_out "$chr\t$pos\t.\t$ref\t$alt\t$snp_qual\t0\tDP=$depth\tGT:GQ:DP\t$gt:$cons_qual:$depth\n"; + + $prev_ref = $ref; + $prev_pos = $pos; + $prev_chr = $chr; + } +} + + +#------------- Fasta -------------------- +# +# Uses samtools to get a requested base from a fasta file. For efficiency, preloads +# a chunk to memory. The size of the cached sequence can be controlled by the 'size' +# parameter. +# +package Fasta; + +use strict; +use warnings; +use Carp; + +sub Fasta::new +{ + my ($class,@args) = @_; + my $self = {@args}; + bless $self, ref($class) || $class; + if ( !$$self{file} ) { $self->throw(qq[Missing the parameter "file"\n]); } + $$self{chr} = undef; + $$self{from} = undef; + $$self{to} = undef; + if ( !$$self{size} ) { $$self{size}=10_000_000; } + bless $self, ref($class) || $class; + return $self; +} + +sub read_chunk +{ + my ($self,$chr,$pos) = @_; + my $to = $pos + $$self{size}; + my $cmd = "samtools faidx $$self{file} $chr:$pos-$to"; + my @out = `$cmd`; + if ( $? ) { $self->throw("$cmd: $!"); } + my $line = shift(@out); + if ( !($line=~/^>$chr:(\d+)-(\d+)/) ) { $self->throw("Could not parse: $line"); } + $$self{chr} = $chr; + $$self{from} = $1; + $$self{to} = $2; + my $chunk = ''; + while ($line=shift(@out)) + { + chomp($line); + $chunk .= $line; + } + $$self{chunk} = $chunk; + return; +} + +sub get_base +{ + my ($self,$chr,$pos) = @_; + if ( !$$self{chr} || $chr ne $$self{chr} || $pos<$$self{from} || $pos>$$self{to} ) + { + $self->read_chunk($chr,$pos); + } + my $idx = $pos - $$self{from}; + return substr($$self{chunk},$idx,1); +} + +sub throw +{ + my ($self,@msg) = @_; + croak(@msg); +}