Mercurial > repos > dvanzessen > vep_emc
view dir_plugins/FATHMM.pm @ 10:f594c6bed58f draft default tip
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| author | dvanzessen |
|---|---|
| date | Tue, 21 Apr 2020 11:40:19 +0000 |
| parents | e545d0a25ffe |
| children |
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=head1 LICENSE Copyright [1999-2015] Wellcome Trust Sanger Institute and the EMBL-European Bioinformatics Institute Copyright [2016-2018] EMBL-European Bioinformatics Institute Licensed under the Apache License, Version 2.0 (the "License"); you may not use this file except in compliance with the License. You may obtain a copy of the License at http://www.apache.org/licenses/LICENSE-2.0 Unless required by applicable law or agreed to in writing, software distributed under the License is distributed on an "AS IS" BASIS, WITHOUT WARRANTIES OR CONDITIONS OF ANY KIND, either express or implied. See the License for the specific language governing permissions and limitations under the License. =head1 CONTACT Ensembl <http://www.ensembl.org/info/about/contact/index.html> =cut =head1 NAME FATHMM =head1 SYNOPSIS mv FATHMM.pm ~/.vep/Plugins ./vep -i variations.vcf --plugin FATHMM,"python /path/to/fathmm/fathmm.py" =head1 DESCRIPTION A VEP plugin that gets FATHMM scores and predictions for missense variants. You will need the fathmm.py script and its dependencies (Python, Python MySQLdb). You should create a "config.ini" file in the same directory as the fathmm.py script with the database connection options. More information about how to set up FATHMM can be found on the FATHMM website at https://github.com/HAShihab/fathmm. A typical installation could consist of: > wget https://raw.github.com/HAShihab/fathmm/master/cgi-bin/fathmm.py > wget ftp://supfam2.cs.bris.ac.uk/FATHMM/database/fathmm.v2.1.SQL > mysql -h[host] -P[port] -u[user] -p[pass] -e"CREATE DATABASE fathmm" > mysql -h[host] -P[port] -u[user] -p[pass] -Dfathmm < fathmm.v2.1.SQL > echo "[DATABASE]\nHOST = [host]\nPORT = [port]\nUSER = [user]\nPASSWD = [pass]\nDB = fathmm\n" > config.ini =cut package FATHMM; use strict; use warnings; use Bio::EnsEMBL::Variation::Utils::BaseVepPlugin; use base qw(Bio::EnsEMBL::Variation::Utils::BaseVepPlugin); sub new { my $class = shift; my $self = $class->SUPER::new(@_); # get command my $command = $self->params->[0]; die 'ERROR: No FATHMM command specified. Specify path to FATHMM with e.g. --plugin FATHMM,"python /path/to/fathmm/fathmm.py"\n' unless defined($command); die 'ERROR: Your FATHMM command does not look correct; it should looks something like "python /path/to/fathmm/fathmm.py"\n' unless $command =~ /python.+fathmm\.py/; $self->{command} = $command; die 'ERROR: Temporary directory '.$self->{config}->{tmpdir}.' not found - specify an existing directory with --tmpdir [dir]\n' unless -d $self->{config}->{tmpdir}; return $self; } sub version { return 71; } sub feature_types { return ['Transcript']; } sub get_header_info { return { FATHMM => "FATHMM prediction (score)", }; } sub run { my ($self, $tva) = @_; # only for missense variants return {} unless grep {$_->SO_term eq 'missense_variant'} @{$tva->get_all_OverlapConsequences}; # configure command my $command = $self->{command}; $command =~ m/(\s.+)\/.+/; my $command_dir = $1; # configure tmp dir and in/out files for FATHMM my $tmp_dir = $self->{config}->{tmpdir}; my $tmp_in_file = $tmp_dir."/fathmm_$$\.in"; my $tmp_out_file = $tmp_dir."/fatmm_$$\.out"; # get required input data from TVA my $protein = $tva->transcript->{_protein} || $tva->transcript->translation->stable_id; my $aa_change = $tva->pep_allele_string; my $aa_pos = $tva->transcript_variation->translation_start; $aa_change =~ s/\//$aa_pos/; # check we have valid strings return {} unless $protein && $aa_change =~ /^[A-Z]\d+[A-Z]$/; # write input file open IN, ">$tmp_in_file" or die "ERROR: Could not write to file $tmp_in_file\n"; print IN "$protein $aa_change\n"; close IN; # run command my $fathmm_err = `cd $command_dir; $command $tmp_in_file $tmp_out_file;`; # read output file open OUT, $tmp_out_file or die "ERROR: Could not read from file $tmp_out_file\n"; my ($pred, $score); while(<OUT>) { next if /^\#/; chomp; my @data = split; ($pred, $score) = ($data[4], $data[5]); } close OUT; # delete temporary files unlink($tmp_in_file, $tmp_out_file); return $pred && $score ? { FATHMM => "$pred($score)", } : {}; } 1;
