Mercurial > repos > miller-lab > genome_diversity
annotate gd_snp2vcf.pl @ 36:51cd0307fb70
Phylip's extra ouputs are now stored in the job working directory
author | Richard Burhans <burhans@bx.psu.edu> |
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date | Wed, 20 Nov 2013 16:32:01 -0500 |
parents | a631c2f6d913 |
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rev | line source |
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1 #!/usr/bin/perl -w |
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2 use strict; |
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3 |
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4 #convert from gd_snp file to vcf file (with dbSNP fields) |
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5 |
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6 #gd_snp table format: |
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7 #1. chr |
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8 #2. position (0 based) |
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9 #3. ref allele |
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10 #4. second allele |
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11 #5. overall quality |
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12 #foreach individual (6-9, 10-13, ...) |
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13 #a. count of allele in 3 |
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14 #b. count of allele in 4 |
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15 #c. genotype call (-1, or count of ref allele) |
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16 #d. quality of genotype call (quality of non-ref allele from masterVar) |
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17 |
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18 if (!@ARGV) { |
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19 print "usage: gd_snp2vcf.pl file.gd_snp[.gz|.bz2] -geno=8[,12:16,20...] -handle=HANDLE -batch=BATCHNAME -ref=REFERENCEID [-bioproj=XYZ -biosamp=ABC -population=POPID[,POPID2...] -chrCol=9 -posCol=9 ] > snpsForSubmission.vcf\n"; |
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20 exit; |
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21 } |
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22 |
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23 my $in = shift @ARGV; |
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24 my $genoCols = ''; |
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25 my $handle; |
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26 my $batch; |
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27 my $bioproj; |
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28 my $biosamp; |
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29 my $ref; |
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30 my $pop; |
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31 my $cr = 0; #allow to use alternate reference? |
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32 my $cp = 1; |
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33 my $meta; |
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34 my $offset = 0; #offset for genotype column, gd_snp vs gd_genotype indivs file |
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35 foreach (@ARGV) { |
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36 if (/-geno=([0-9,]+)/) { $genoCols .= "$1:"; } |
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37 elsif (/-geno=(.*)/) { $genoCols .= readGeno($1); } |
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38 elsif (/-off=([0-9])/) { $offset = $1; } |
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39 elsif (/-handle=(.*)/) { $handle = $1; } |
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40 elsif (/-batch=(.*)/) { $batch = $1; } |
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41 elsif (/-bioproj=(.*)/) { $bioproj = $1; } |
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42 elsif (/-biosamp=(.*)/) { $biosamp = $1; } |
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43 elsif (/-ref=(.*)/) { $ref = $1; } |
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44 elsif (/-population=(\S+)/) { $pop = $1; } |
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45 elsif (/-chrCol=(\d+)/) { $cr = $1 - 1; } |
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46 elsif (/-posCol=(\d+)/) { $cp = $1 - 1; } |
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47 elsif (/-metaOut=(.*)/) { $meta = $1; } |
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48 } |
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49 if ($cr < 0 or $cp < 0) { die "ERROR the column numbers should be 1 based.\n"; } |
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50 |
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51 #remove trailing delimiters |
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52 $genoCols =~ s/,:/:/g; |
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53 $genoCols =~ s/[,:]$//; |
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54 |
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55 my @gnc = split(/,|:/, $genoCols); |
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56 |
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57 if ($in =~ /.gz$/) { |
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58 open(FH, "zcat $in |") or die "Couldn't open $in, $!\n"; |
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59 }elsif ($in =~ /.bz2$/) { |
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60 open(FH, "bzcat $in |") or die "Couldn't open $in, $!\n"; |
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61 }else { |
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62 open(FH, $in) or die "Couldn't open $in, $!\n"; |
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63 } |
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64 my @head = prepHeader(); |
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65 if (@head) { |
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66 print join("\n", @head), "\n"; |
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67 #now column headers |
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68 print "#CHROM\tPOS\tID\tREF\tALT\tQUAL\tFILTER\tINFO"; |
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69 if (defined $pop) { |
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70 $pop =~ s/,$//; |
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71 my $t = $pop; |
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72 $t =~ s/,/\t/g; |
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73 print "\tFORMAT\t$t"; |
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74 } |
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75 print "\n"; |
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76 } |
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77 while (<FH>) { |
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78 chomp; |
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79 if (/^#/) { next; } |
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80 if (/^\s*$/) { next; } |
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81 my @f = split(/\t/); |
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82 #vcf columns: chrom pos id ref alt qual filter info |
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83 # info must have VRT=[0-9] 1==SNV 2=indel 6=NoVariation 8=MNV ... |
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84 my $vrt = 1; |
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85 if ($f[2] !~ /^[ACTG]$/ or $f[3] !~ /^[ACTG]$/) { |
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86 die "Sorry this can only do SNV's at this time\n"; |
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87 } |
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88 if (scalar @gnc == 1 && !defined $pop) { #single genotype column |
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89 if (!defined $f[4] or $f[4] == -1) { $f[4] = '.'; } |
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90 if ($f[$gnc[0]-1] == 2) { $vrt = 6; } #reference match |
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91 if ($f[$gnc[0]-1] == -1) { next; } #no data, don't use |
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92 print "$f[$cr]\t$f[$cp]\t$f[$cr];$f[$cp]\t$f[2]\t$f[3]\t$f[4]\t.\tVRT=$vrt\n"; |
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93 #TODO? put read counts in comment? |
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94 }elsif ($pop) { #do as population |
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95 my @cols; |
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96 foreach my $gp (split(/:/,$genoCols)) { #foreach population |
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97 my @g = split(/,/, $gp); |
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98 my $totChrom = 2*(scalar @g); |
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99 my $totRef = 0; |
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100 foreach my $i (@g) { if (!defined $f[$i-1] or $f[$i-1] == -1) { $totChrom -= 2; next; } $totRef += $f[$i-1]; } |
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101 if ($totChrom == $totRef) { $vrt = 6; } |
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102 if ($totRef > $totChrom) { die "ERROR likely the wrong column was chosen for genotype\n"; } |
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103 my $altCnt = $totChrom - $totRef; |
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104 push(@cols, "$totChrom:$altCnt"); |
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105 } |
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106 print "$f[$cr]\t$f[$cp]\t$f[$cr];$f[$cp]\t$f[2]\t$f[3]\t$f[4]\t.\tVRT=$vrt\tNA:AC\t", join("\t", @cols), "\n"; |
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107 }else { #leave allele counts off |
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108 my $totChrom = 2*(scalar @gnc); |
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109 my $totRef = 0; |
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110 foreach my $i (@gnc) { if ($f[$i-1] == -1) { $totChrom -= 2; next; } $totRef += $f[$i-1]; } |
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111 if ($totChrom == $totRef) { $vrt = 6; } |
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112 print "$f[$cr]\t$f[$cp]\t$f[$cr];$f[$cp]\t$f[2]\t$f[3]\t$f[4]\t.\tVRT=$vrt\n"; |
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113 } |
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114 } |
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115 close FH or die "Couldn't close $in, $!\n"; |
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116 |
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117 if ($meta) { |
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118 open(FH, ">", $meta) or die "Couldn't open $meta, $!\n"; |
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119 print FH "TYPE: CONT\n", |
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120 "HANDLE: $handle\n", |
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121 "NAME: \n", |
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122 "FAX: \n", |
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123 "TEL: \n", |
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124 "EMAIL: \n", |
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125 "LAB: \n", |
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126 "INST: \n", |
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127 "ADDR: \n", |
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128 "||\n", |
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129 "TYPE: METHOD\n", |
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130 "HANDLE: $handle\n", |
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131 "ID: \n", |
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132 "METHOD_CLASS: Sequence\n", |
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133 "TEMPLATE_TYPE: \n", |
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134 "METHOD:\n", |
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135 "||\n"; |
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136 if ($pop) { |
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137 my @p = split(/,/, $pop); |
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138 foreach my $t (@p) { |
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139 print FH |
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140 "TYPE: POPULATION\n", |
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141 "HANDLE: $handle\n", |
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142 "ID: $t\n", |
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143 "POPULATION: \n", |
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144 "||\n"; |
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145 } |
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146 } |
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147 print FH "TYPE: SNPASSAY\n", |
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148 "HANDLE: $handle\n", |
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149 "BATCH: $batch\n", |
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150 "MOLTYPE: \n", |
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151 "METHOD: \n", |
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152 "ORGANISM: \n", |
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153 "||\n", |
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154 "TYPE: SNPPOPUSE | SNPINDUSE\n", |
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155 "HANDLE: $handle\n", |
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156 "BATCH: \n", |
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157 "METHOD: \n", |
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158 "||\n"; |
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159 |
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160 close FH or die "Couldn't close $meta, $!\n"; |
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161 } |
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162 |
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163 exit 0; |
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164 |
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165 #parse old header and add or create new |
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166 sub prepHeader { |
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167 my @h; |
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168 $h[0] = '##fileformat=VCFv4.1'; |
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169 my ($day, $mo, $yr) = (localtime)[3,4,5]; |
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170 $mo++; |
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171 $yr+=1900; |
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172 $h[1] = '##fileDate=' . "$yr$mo$day"; |
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173 $h[2] = "##handle=$handle"; |
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174 $h[3] = "##batch=$batch"; |
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175 my $i = 4; |
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176 if ($bioproj) { $h[$i] = "##bioproject_id=$bioproj"; $i++; } |
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177 if ($biosamp) { $h[$i] = "##biosample_id=$biosamp"; $i++; } |
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178 $h[$i] = "##reference=$ref"; ##reference=GCF_999999.99 |
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179 #$i++; |
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180 #$h[$i] = '##INFO=<ID=LID, Number=1,Type=string, Description="Unique local variation ID or name for display. The LID provided here combined with the handle must be unique for a particular submitter.">' |
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181 $i++; |
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182 $h[$i] = '##INFO=<ID=VRT,Number=1,Type=Integer,Description="Variation type,1 - SNV: single nucleotide variation,2 - DIV: deletion/insertion variation,3 - HETEROZYGOUS: variable, but undefined at nucleotide level,4 - STR: short tandem repeat (microsatellite) variation, 5 - NAMED: insertion/deletion variation of named repetitive element,6 - NO VARIATON: sequence scanned for variation, but none observed,7 - MIXED: cluster contains submissions from 2 or more allelic classes (not used) ,8 - MNV: multiple nucleotide variation with all eles of common length greater than 1,9 - Exception">'; |
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183 #sometimes have allele freqs? |
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184 if (defined $pop) { |
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185 $i++; |
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186 $h[$i] = "##FORMAT=<ID=NA,Number=1,Type=Integer,Description=\"Number of alleles for the population.\""; |
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187 $i++; |
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188 $h[$i] = '##FORMAT=<ID=AC,Number=.,Type=Integer,Description="Allele count for each alternate allele.">'; |
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189 my @p = split(/,/, $pop); |
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190 foreach my $t (@p) { |
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191 $i++; |
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192 $h[$i] = "##population_id=$t"; |
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193 } |
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194 } |
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195 #PMID? |
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196 ##INFO=<ID=PMID,Number=.,Type=Integer,Description="PubMed ID linked to variation if available."> |
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197 |
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198 return @h; |
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199 } |
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200 ####End |
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201 |
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202 #read genotype columns from a file |
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203 sub readGeno { |
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204 my $list = shift @_; |
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205 my @files = split(/,/, $list); |
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206 my $cols=''; |
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207 foreach my $file (@files) { |
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208 open(FH, $file) or die "Couldn't read $file, $!\n"; |
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209 while (<FH>) { |
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210 chomp; |
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211 my @f = split(/\s+/); |
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212 if ($f[0] =~/\D/) { die "ERROR expect an integer for the column\n"; } |
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213 $f[0] += $offset; |
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214 $cols .= "$f[0],"; |
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215 } |
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216 close FH; |
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217 $cols .= ":"; |
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218 } |
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219 $cols =~ s/,:$//; |
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220 return $cols; |
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221 } |
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222 ####End |