benchmarking/PHASE3-1KG/comp_truth_wham1kg.pl
#!/usr/bin/perl
use strict;
use warnings;
use Getopt::Long;
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#----------------------------------- MAIN ------------------------------------
#-----------------------------------------------------------------------------
my $usage = "
Synopsis:
comp_truth_wham.pl truth.vcf wham.vcf
Description:
No really, how the hell do you use this thing!
";
my ($help);
my $FP;
my $opt_success = GetOptions('help' => \$help,
'FP' => \$FP,
);
die $usage if $help || ! $opt_success;
my $file = shift;
my $fileb = shift;
die $usage unless $file && $fileb;
open (my $IN, '<', $file) or die "Can't open $file for reading\n$!\n";
my %truth;
my %bad;
$bad{'MT'} = 1;
$bad{'hs37d5'} = 1;
$bad{'GL0002191'} = 1;
$bad{'GL0002241'} = 1;
$bad{'GL0002211'} = 1;
$bad{'GL0001921'} = 1;
$bad{'GL0001931'} = 1;
$bad{'GL0001951'} = 1;
$bad{'GL0001991'} = 1;
$bad{'GL0002041'} = 1;
$bad{'GL0002051'} = 1;
$bad{'GL0002071'} = 1;
$bad{'GL0002081'} = 1;
$bad{'GL0002121'} = 1;
$bad{'GL0002141'} = 1;
$bad{'GL0002161'} = 1;
$bad{'GL0002171'} = 1;
$bad{'GL0002201'} = 1;
$bad{'GL0002251'} = 1;
$bad{'GL0002261'} = 1;
$bad{'GL0002281'} = 1;
$bad{'GL0002321'} = 1;
$bad{'GL0002341'} = 1;
$bad{'GL0002351'} = 1;
$bad{'GL0002371'} = 1;
$bad{'GL0002391'} = 1;
$bad{'GL0002401'} = 1;
$bad{'GL000191.1'} = 1;
$bad{'GL000192.1'} = 1;
$bad{'GL000193.1'} = 1;
$bad{'GL000194.1'} = 1;
$bad{'GL000195.1'} = 1;
$bad{'GL000198.1'} = 1;
$bad{'GL000199.1'} = 1;
$bad{'GL000202.1'} = 1;
$bad{'GL000203.1'} = 1;
$bad{'GL000204.1'} = 1;
$bad{'GL000205.1'} = 1;
$bad{'GL000206.1'} = 1;
$bad{'GL000206.1'} = 1;
$bad{'GL000207.1'} = 1;
$bad{'GL000208.1'} = 1;
$bad{'GL000210.1'} = 1;
$bad{'GL000211.1'} = 1;
$bad{'GL000212.1'} = 1;
$bad{'GL000213.1'} = 1;
$bad{'GL000214.1'} = 1;
$bad{'GL000215.1'} = 1;
$bad{'GL000216.1'} = 1;
$bad{'GL000217.1'} = 1;
$bad{'GL000218.1'} = 1;
$bad{'GL000219.1'} = 1;
$bad{'GL000220.1'} = 1;
$bad{'GL000221.1'} = 1;
$bad{'GL000222.1'} = 1;
$bad{'GL000224.1'} = 1;
$bad{'GL000225.1'} = 1;
$bad{'GL000226.1'} = 1;
$bad{'GL000227.1'} = 1;
$bad{'GL000228.1'} = 1;
$bad{'GL000229.1'} = 1;
$bad{'GL000230.1'} = 1;
$bad{'GL000231.1'} = 1;
$bad{'GL000232.1'} = 1;
$bad{'GL000234.1'} = 1;
$bad{'GL000235.1'} = 1;
$bad{'GL000236.1'} = 1;
$bad{'GL000237.1'} = 1;
$bad{'GL000238.1'} = 1;
$bad{'GL000239.1'} = 1;
$bad{'GL000240.1'} = 1;
$bad{'GL000241.1'} = 1;
$bad{'GL000242.1'} = 1;
$bad{'GL000243.1'} = 1;
$bad{'GL000244.1'} = 1;
$bad{'GL000247.1'} = 1;
$bad{'GL000248.1'} = 1;
$bad{'chrUn_gl000245'} = 1;
$bad{'chrUn_gl000246'} = 1;
$bad{'chrUn_gl000247'} = 1;
$bad{'chrUn_gl000248'} = 1;
$bad{'chr6_cox_hap2'} = 1;
$bad{'chr6_dbb_hap3'} = 1;
$bad{'chr6_mann_hap4'} = 1;
$bad{'chr6_mcf_hap5'} = 1;
$bad{'chr6_qbl_hap6'} = 1;
$bad{'chr6_ssto_hap7'} = 1;
$bad{'chr11_gl000202_random'} = 1;
$bad{'chr17_gl000203_random'} = 1;
$bad{'chr17_gl000204_random'} = 1;
$bad{'chr17_gl000205_random'} = 1;
$bad{'chr17_gl000206_random'} = 1;
$bad{'chr18_gl000207_random'} = 1;
$bad{'chr19_gl000208_random'} = 1;
$bad{'chr19_gl000209_random'} = 1;
$bad{'chr1_gl000191_random'} = 1;
$bad{'chr1_gl000192_random'} = 1;
$bad{'chr21_gl000210_random'} = 1;
$bad{'chr4_gl000193_random'} = 1;
$bad{'chr4_gl000194_random'} = 1;
$bad{'chr7_gl000195_random'} = 1;
$bad{'chr8_gl000196_random'} = 1;
$bad{'chr8_gl000197_random'} = 1;
$bad{'chr9_gl000198_random'} = 1;
$bad{'chr9_gl000199_random'} = 1;
$bad{'chr9_gl000200_random'} = 1;
$bad{'chr9_gl000201_random'} = 1;
my $n = 0;
VAR: while (<$IN>) {
chomp;
next VAR if $_ =~ /^#/;
my @l = split /\t/, $_;
$n++;
for(my $i = $l[3] - 25; $i < $l[3] + 25; $i++){
$truth{$l[0]}{$i} = $_;
}
for(my $i = $l[4] - 25; $i < $l[4] + 25; $i++){
$truth{$l[0]}{$i} = $_;
}
}
close $IN;
print STDERR "n vars in truth set: ", $n, "\n";
open(my $INB, '<', $fileb) or die "Can't open $fileb for reading\n$!\n";
my %HIT;
my %UNI;
my $tp ;
my $fp ;
VAR: while (<$INB>) {
chomp;
next VAR if $_ =~ /^#/;
my @l = split /\t/, $_;
my %INFO = map {split /;|=/ } $l[7];
# next VAR if $INFO{MQF} > 0.1;
# next VAR if $INFO{MQ} < 50 ;
my $endSeqid = -1;
my $endPos = -1;
my $count = 0;
if($INFO{BE} ne '.'){
($endSeqid, $endPos, $count) = split /,/, $INFO{BE};
}
next VAR if defined $bad{$l[0]};
next VAR if defined $bad{$endSeqid};
$l[0] =~ s/chr//g;
$endSeqid =~ s/chr//g;
if(! defined $truth{$l[0]}{$l[1]} && ! defined $truth{$endSeqid}{$endPos}){
$fp++;
if($FP){
print "FP:";
print "\t", $_;
print "\n";
}
next VAR;
}
if(defined $truth{$l[0]}{$l[1]}){
next VAR if defined $UNI{ $truth{$l[0]}{$l[1]} } ;
}
if(defined $truth{$endSeqid}{$endPos}){
next VAR if defined $UNI{$truth{$endSeqid}{$endPos}};
}
if (defined $truth{$l[0]}{$l[1]}){
$UNI{$truth{$l[0]}{$l[1]}}++;
$tp++;
my @truth = split /\t/, $truth{$l[0]}{$l[1]} ;
if(! $FP){
print $truth[2];
print "\t", $_;
print "\n";
}
next VAR;
}
if (defined $truth{$endSeqid}{$endPos}){
$UNI{$truth{$endSeqid}{$endPos}}++;
$HIT{$endSeqid}{$endPos}++;
$tp++;
my @truth = split /\t/, $truth{$endSeqid}{$endPos} ;
if(! $FP){
print $truth[2];
print "\t", $_;
print "\n";
next VAR;
}
}
}
close $INB;
print STDERR "tp: $tp fp:$fp\n";
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