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12
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1
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2 #!/usr/bin/perl
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3
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4 use strict;
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5 use Switch;
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6 use Getopt::Long;
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7 use Bio::SeqIO;
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8
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9 my $usage = qq~Usage:$0 <args> [<opts>]
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10
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11 where <args> are:
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12
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13 -i, --input <VCF input>
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14 -o, --out <Output basename>
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15
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16 <opts> are:
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17
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18 -s, --samples <Samples to be analyzed. Comma separated list>
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19 -c, --chromosomes <Chromosomes to be analyzed. Comma separated list>
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20 -e, --export <Output format (VCF/freq/plink. Default: VCF>
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21 -f, --frequency <Minimum MAF. Default: 0.001>
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22 -m, --max_freq <Maximum MAF. Default: 0.5>
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23 -a, --allow_missing <Allowed missing data proportion per site. Must be comprised between 0 and 1. Default: 0>
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24 -n, --nb_alleles <Accepted number of alleles (min,max). Default: 2,4>
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25 -t, --type <Type of polymorphisms to keep (ALL/SNP/INDEL). Default: ALL>
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26 -b, --bounds <Lower bound and upper bound for a range of sites to be processed (start,end). Default: 1, 100000000>
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27 ~;
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28 $usage .= "\n";
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29
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30 my ($input,$out);
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31
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32
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33 #my $indel_size_max = 500;
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34 #my $indel_size_min = 1;
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35 my $frequency_max = 0.5;
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36 my $frequency_min = 0.001;
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37 my $pos_max = 100000000000;
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38 my $pos_min = 0;
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39 my $filter_snp_type = "all";
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40
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41 my $missing_data = 0;
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42 my $export = "VCF";
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43 my $type = "ALL";
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44 my $nb_alleles;
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45 my $bounds;
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46 my $samples;
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47 my $chromosomes;
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48
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49 GetOptions(
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50 "input=s" => \$input,
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51 "out=s" => \$out,
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52 "samples=s" => \$samples,
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53 "chromosomes=s" => \$chromosomes,
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54 "frequency=s" => \$frequency_min,
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55 "max_freq=s" => \$frequency_max,
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56 "allow_missing=s"=> \$missing_data,
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57 "export=s" => \$export,
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58 "type=s" => \$type,
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59 "nb_alleles=s" => \$nb_alleles,
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60 "bounds=s" => \$bounds,
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61 );
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62
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63
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64 die $usage
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65 if ( !$input || !$out);
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66
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67 if ($samples && $samples =~/^([\w\,]+)\s*$/){
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68 $samples = $1;
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69 }
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70 elsif ($samples){
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71 die "Error: Samples must be a comma separated list of string\n";
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72 }
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73 if ($chromosomes && $chromosomes =~/^([\w\,]+)\s*$/){
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74 $chromosomes = $1;
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75 }
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76 elsif($chromosomes){
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77 die "Error: Chromosomes must be a comma separated list of string\n";
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78 }
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79 if ($bounds && $bounds =~/^([\d\,]+)\s*$/){
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80 $bounds = $1;
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81 }
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82 elsif($bounds){
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83 die "Error: Bounds must be a comma separated list of integers\n";
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84 }
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85
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86 if ($frequency_min && $frequency_min =~/^([\d\.]+)\s*$/){
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87 $frequency_min = $1;
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88 }
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89 elsif ($frequency_min){
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90 die "Error: frequency must be an integer\n";
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91 }
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92 if ($frequency_max && $frequency_max =~/^([\d\.]+)\s*$/){
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93 $frequency_max = $1;
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94 }
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95 elsif($frequency_max){
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96 die "Error: frequency must be an integer\n";
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97 }
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98 if ($missing_data && $missing_data =~/^([\d\.]+)\s*$/){
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99 $missing_data = $1;
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100 }
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101 elsif ($missing_data){
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102 die "Error: Missing data must be an integer\n";
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103 }
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104 if ($nb_alleles && $nb_alleles =~/^([\d\.\,]+)\s*$/){
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105 $nb_alleles = $1;
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106 }
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107 elsif($nb_alleles){
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108 die "Error: Nb alleles must be two integers\n";
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109 }
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110 if ($export && $export =~/^([\w]+)\s*$/){
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111 $export = $1;
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112 }
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113 elsif($export){
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114 die "Error: Export must be a string\n";
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115 }
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116 if ($type && $type =~/^([\w]+)\s*$/){
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117 $type = $1;
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118 }
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119 elsif($type){
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120 die "Error: Type must be a string\n";
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121 }
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122
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123
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124 my @dnasamples;
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125 if ($samples)
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126 {
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127 @dnasamples = split(",",$samples);
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128 }
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129 my @nalleles;
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130 if ($nb_alleles)
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131 {
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132 @nalleles = split(",",$nb_alleles);
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133 }
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134 my @boundaries;
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135 if ($bounds)
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136 {
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137 @boundaries = split(",",$bounds);
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138 }
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139 my @chromosomes_list;
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140 if ($chromosomes)
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141 {
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142 @chromosomes_list = split(",",$chromosomes);
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143 }
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144
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145
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146 my $experiment = "chromosomes";
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147 my $table = "";
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148 my %genes;
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149 my @snp_ids;
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150 my @snp_ids_and_positions;
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151 my @snp_ids_and_positions_all;
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152 my $gene;
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153 my $snp_num = 0;
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154 my %ref_sequences;
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155 my %snps_of_gene;
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156
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157
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158
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159
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160 my $indiv_cmd = "";
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161 if (@dnasamples)
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162 {
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163 $indiv_cmd = "--indv " . join(" --indv ",@dnasamples);
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164 }
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165
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166 my $chrom_cmd = "";
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167 if (@chromosomes_list)
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168 {
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169 $chrom_cmd = "--chr " . join(" --chr ",@chromosomes_list);
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170 }
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171
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172 my $export_cmd = "--recode";
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173 if ($export eq "freq")
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174 {
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175 $export_cmd = "--freq";
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176 }
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177 if ($export eq "plink")
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178 {
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179 $export_cmd = "--plink";
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180 }
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181
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182
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183
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184 my $nb_alleles_cmd = "--min-alleles 1 --max-alleles 4";
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185 if (@nalleles)
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186 {
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187 $nb_alleles_cmd = "--min-alleles $nalleles[0] --max-alleles $nalleles[1]";
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188 }
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189 my $bounds_cmd = "--from-bp 1 --to-bp 100000000";
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190 if (@boundaries)
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191 {
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192 $bounds_cmd = "--from-bp $boundaries[0] --to-bp $boundaries[1]";
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193 }
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194
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195
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196 my $type_cmd = "";
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197 if ($type eq "INDEL")
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198 {
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199 $type_cmd = "--keep-only-indels";
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200 }
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201 if ($type eq "SNP")
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202 {
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203 $type_cmd = "--remove-indels";
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204 }
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205
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206
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207 system("vcftools --vcf $input --out $out --keep-INFO-all --remove-filtered-all $type_cmd $export_cmd $chrom_cmd $indiv_cmd $nb_alleles_cmd --maf $frequency_min --max-maf $frequency_max --max-missing $missing_data");
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208
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209
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210
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211
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212
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213
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214
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