/usr/bin/run-roh.pl is in bcftools 1.7-2.
This file is owned by root:root, with mode 0o755.
The actual contents of the file can be viewed below.
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#
# The MIT License
#
# Copyright (c) 2017 Genome Research Ltd.
#
# Author: Petr Danecek <pd3@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.
use strict;
use warnings;
use Carp;
use Data::Dumper;
my $opts = parse_params();
run_roh($opts);
eval_roh($opts);
exit;
#--------------------------------
sub error
{
my (@msg) = @_;
if ( scalar @msg ) { confess @msg,"\n"; }
print
"About: This is a convenience wrapper for \"bcftools roh\" which takes multiple VCF/BCF files\n",
" and locates regions private to a sample or shared across multiple samples. On input it\n",
" expects a directory with .vcf, .vcf.gz or .bcf files, a file with allele frequencies\n",
" and optionally a genetic map. See http://samtools.github.io/bcftools/howtos/roh-calling.html\n",
" for details\n",
"Usage: run-roh.pl [OPTIONS]\n",
"Options:\n",
" -a, --af-annots <file> Allele frequency annotations [1000GP-AFs/AFs.tab.gz]\n",
" -i, --indir <dir> Input directory with VCF files\n",
" -l, --min-length <num> Filter input regions shorter than this [1e6]\n",
" -m, --genmap <dir> Directory with genetic map in IMPUTE2 format (optional)\n",
" -M, --rec-rate <float> constant recombination rate per bp (optional)\n",
" -n, --min-markers <num> Filter input regions with fewer marker than this [100]\n",
" -o, --outdir <dir> Output directory\n",
" -q, --min-qual <num> Filter input regions with quality smaller than this [10]\n",
" -s, --silent Quiet output, do not print commands\n",
" -h, -?, --help This help message\n",
"\n";
exit -1;
}
sub parse_params
{
my $opts =
{
af_annots => '1000GP-AFs/AFs.tab.gz',
verbose => 1,
min_length => 1e6,
min_markers => 100,
min_qual => 10,
};
while (defined(my $arg=shift(@ARGV)))
{
if ( $arg eq '-q' || $arg eq '--min-qual' ) { $$opts{min_qual}=shift(@ARGV); next }
if ( $arg eq '-l' || $arg eq '--min-length' ) { $$opts{min_length}=shift(@ARGV); next }
if ( $arg eq '-n' || $arg eq '--min-markers' ) { $$opts{min_markers}=shift(@ARGV); next }
if ( $arg eq '-s' || $arg eq '--silent' ) { $$opts{verbose}=0; next }
if ( $arg eq '-a' || $arg eq '--af-annots' ) { $$opts{af_annots}=shift(@ARGV); next }
if ( $arg eq '-m' || $arg eq '--genmap' ) { $$opts{genmap}=shift(@ARGV); next }
if ( $arg eq '-M' || $arg eq '--rec-rate' ) { $$opts{rec_rate}=shift(@ARGV); next }
if ( $arg eq '-o' || $arg eq '--outdir' ) { $$opts{outdir}=shift(@ARGV); next }
if ( $arg eq '-i' || $arg eq '--indir' ) { $$opts{indir}=shift(@ARGV); next }
if ( $arg eq '-?' || $arg eq '-h' || $arg eq '--help' ) { error(); }
error("Unknown parameter \"$arg\". Run -h for help.\n");
}
if ( !exists($$opts{outdir}) ) { error("Missing the -o, --outdir option.\n") }
if ( !exists($$opts{indir}) ) { error("Missing the -i, --indir option.\n") }
if ( ! -e $$opts{af_annots} ) { error("The annotation file does not exist: $$opts{af_annots}\n"); }
if ( ! -e "$$opts{af_annots}.tbi" ) { error("The annotation file is not indexed: $$opts{af_annots}.tbi\n"); }
if ( ! -e "$$opts{af_annots}.hdr" ) { error("The annotation file has no header: $$opts{af_annots}.hdr\n"); }
if ( exists($$opts{genmap}) && ! -d "$$opts{genmap}" ) { error("The directory with genetic maps does not exist: $$opts{genmap}\n"); }
return $opts;
}
sub cmd
{
my ($cmd,%args) = @_;
if ( $args{verbose} ) { print STDERR $cmd,"\n"; }
# Why not to use backticks? Perl calls /bin/sh, which is often bash. To get the correct
# status of failing pipes, it must be called with the pipefail option.
my $kid_io;
my $pid = open($kid_io, "-|");
if ( !defined $pid ) { error("Cannot fork: $!"); }
my @out;
if ($pid)
{
# parent
@out = <$kid_io>;
close($kid_io);
}
else
{
# child
exec('/bin/bash', '-o','pipefail','-c', $cmd) or error("Failed to run the command [/bin/sh -o pipefail -c $cmd]: $!");
}
if ( exists($args{exit_on_error}) && !$args{exit_on_error} ) { return @out; }
my $exit_status = $?;
my $status = exists($args{require_status}) ? $args{require_status} : 0;
if ( $status ne $exit_status )
{
my $msg;
if ( $? & 0xff )
{
$msg = "The command died with signal ".($? & 0xff);
}
else
{
$msg = "The command exited with status ".($? >> 8)." (expected $status)";
}
$msg .= ":\n\t$cmd\n\n";
if ( @out ) { $msg .= join('',@out,"\n\n"); }
error($msg);
}
return @out;
}
# determine the common prefix/suffix in file names like:
# genetic_map_chr12_combined_b37.txt
# genetic_map_chr13_combined_b37.txt
sub parse_genmap_path
{
my ($opts) = @_;
if ( !exists($$opts{genmap}) or !-d $$opts{genmap} ) { return ''; }
my @files = glob("$$opts{genmap}/*");
my $prefix = $files[0];
my $suffix = $files[0];
for my $file (@files)
{
while ( length($prefix) && index($file,$prefix)==-1 )
{
substr($prefix,length($prefix)-1,1,'');
}
if ( !length($prefix) ) { last; }
}
for my $file (@files)
{
while ( length($suffix) && rindex($file,$suffix)==-1 )
{
substr($suffix,0,1,'');
}
if ( !length($suffix) ) { last; }
}
my @test = glob("$prefix*$suffix");
if ( @test != @files )
{
print STDERR "Warning: Could not determine the genetic map files [$prefix][$suffix]\n";
return '';
}
return "-m $prefix\{CHROM}$suffix";
}
sub run_roh
{
my ($opts) = @_;
cmd("mkdir -p $$opts{outdir}",%$opts) unless -d $$opts{outdir};
my $chr_fname = "$$opts{outdir}/chr-names.txt";
open(my $fh,'>',$chr_fname) or error("$chr_fname: $!");
for my $chr (1..22,'X') { print $fh "chr$chr\t$chr\n"; }
close($fh) or error("close failed: $chr_fname");
my @files = ();
opendir(my $dh,$$opts{indir}) or error("$$opts{indir}: $!");
while (my $file = readdir($dh))
{
if ( !($file=~/\.vcf$/i) && !($file=~/\.vcf\.gz$/i) && !($file=~/\.bcf$/i) ) { next; }
my $outfile = "$$opts{outdir}/$`.bcf";
push @files,$outfile;
if ( -e $outfile ) { next; }
cmd(
"bcftools annotate --rename-chrs $chr_fname '$$opts{indir}/$file' -Ou | " .
"bcftools annotate -c CHROM,POS,REF,ALT,AF1KG -h $$opts{af_annots}.hdr -a $$opts{af_annots} -Ob -o $outfile.part && " .
"mv $outfile.part $outfile",%$opts);
}
closedir($dh) or error("close failed: $$opts{indir}");
my $genmap = parse_genmap_path($opts);
if ( exists($$opts{rec_rate}) ) { $genmap .= " -M $$opts{rec_rate}"; }
for my $file (@files)
{
if ( -e "$file.txt.gz" ) { next; }
my @out = cmd("bcftools roh --AF-tag AF1KG $genmap $file -Orz -o $file.txt.gz.part 2>&1 | tee -a $file.log",%$opts);
for my $line (@out)
{
if ( !($line=~m{total/processed:\s+(\d+)/(\d+)}) ) { next; }
my $total = $1;
my $used = $2;
if ( !$total or $used/$total < 0.3 )
{
print STDERR @out;
print STDERR "WARNING: Less than 30% of sites was used!\n\n";
}
}
cmd(qq[bcftools query -f'GT\\t%CHROM\\t%POS[\\t%SAMPLE\\t%GT]\\n' $file | gzip -c >> $file.txt.gz.part && mv $file.txt.gz.part $file.txt.gz],%$opts);
}
$$opts{files} = \@files;
}
sub next_region
{
my ($regions) = @_;
my $chr = undef;
for my $chrom (sort keys %$regions)
{
if ( %{$$regions{$chrom}} ) { $chr = $chrom; last; }
delete($$regions{$chrom});
}
if ( !defined $chr ) { return undef; }
my %min = ();
for my $smpl (keys %{$$regions{$chr}})
{
if ( !exists($$regions{$chr}{$smpl}) ) { next; }
my $reg = $$regions{$chr}{$smpl}[0];
if ( !%min )
{
$min{chr} = $chr;
$min{beg} = $$reg{beg};
$min{end} = $$reg{end};
next;
}
if ( $min{beg} > $$reg{beg} ) { $min{beg} = $$reg{beg}; }
}
if ( !%min ) { return undef; }
for my $smpl (keys %{$$regions{$chr}})
{
if ( !exists($$regions{$chr}{$smpl}) ) { next; }
my $reg = $$regions{$chr}{$smpl}[0];
if ( $min{end} > $$reg{end} ) { $min{end} = $$reg{end}; }
if ( $min{end} > $$reg{beg} - 1 && $min{beg} != $$reg{beg} ) { $min{end} = $$reg{beg} - 1; }
}
return \%min;
}
sub eval_roh
{
my ($opts) = @_;
my %regions = ();
my %samples = ();
my %lengths = ();
for my $file (@{$$opts{files}})
{
open(my $fh,"gunzip -c $file.txt.gz |") or error("gunzip -c $file.txt.gz: $!");
while (my $line=<$fh>)
{
if ( !($line=~/^RG/) ) { next; }
my (%vals);
@vals{qw(type smpl chr beg end len num qual)} = split(/\s+/,$line);
if ( $vals{type} ne 'RG' ) { next; }
chomp($vals{qual});
if ( $vals{len} < $$opts{min_length} ) { next; }
if ( $vals{num} < $$opts{min_markers} ) { next; }
if ( $vals{qual} < $$opts{min_qual} ) { next; }
push @{$regions{$vals{chr}}{$vals{smpl}}},\%vals;
$samples{$vals{smpl}} = 1;
$lengths{$vals{smpl}} += $vals{end} - $vals{beg} + 1;
}
close($fh) or error("close failed: gunzip -c $file.txt.gz");
}
open(my $fh,'>',"$$opts{outdir}/merged.txt") or error("$$opts{outdir}/merged.txt: $!");
my @samples = sort keys %samples;
print $fh "# [1]chrom\t[2]beg\t[3]end\t[4]length (Mb)";
my $i = 5;
for my $smpl (@samples) { print $fh "\t[$i]$smpl"; $i++; }
print $fh "\n";
while (my $min = next_region(\%regions))
{
my $chr = $$min{chr};
my $beg = $$min{beg};
my $end = $$min{end};
printf $fh "$chr\t$beg\t$end\t%.2f",($end-$beg+1)/1e6;
for my $smpl (@samples)
{
if ( !exists($regions{$chr}{$smpl}) ) { goto not_present; }
my $reg = $regions{$chr}{$smpl}[0];
if ( $$reg{beg} > $end ) { goto not_present; }
if ( $$reg{end} > $end ) { $regions{$chr}{$smpl}[0]{beg} = $end + 1; }
else { shift @{$regions{$chr}{$smpl}}; }
if ( !@{$regions{$chr}{$smpl}} ) { delete($regions{$chr}{$smpl}); }
$lengths{$smpl} -= $end - $beg + 1;
print $fh "\t1";
next;
not_present:
print $fh "\t0";
}
print $fh "\n";
}
close($fh) or error("close failed: $$opts{outdir}/merged.txt");
for my $smpl (@samples)
{
if ( $lengths{$smpl}!=0 )
{
print STDERR "ERROR: a bug detected, sanity check failed, expected zero length : $smpl .. $lengths{$smpl}\n";
}
}
print STDERR "The merged regions are in $$opts{outdir}/merged.txt\n";
}
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