diff dir_plugins/MPC.pm @ 3:49397129aec0 draft

Uploaded

--- /dev/null	Thu Jan 01 00:00:00 1970 +0000
+++ b/dir_plugins/MPC.pm	Mon Jul 15 05:20:39 2019 -0400
@@ -0,0 +1,135 @@
+=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
+
+ MPC
+
+=head1 SYNOPSIS
+
+ mv MPC.pm ~/.vep/Plugins
+ ./vep -i variations.vcf --plugin MPC,fordist_constraint_official_mpc_values.txt.gz
+
+=head1 DESCRIPTION
+
+ A VEP plugin that retrieves MPC scores for variants from a tabix-indexed MPC data file.
+
+ MPC is a missense deleteriousness metric based on the analysis of genic regions
+ depleted of missense mutations in the Exome Agggregation Consortium (ExAC) data.
+
+ The MPC score is the product of work by Kaitlin Samocha ([e-mail]).
+ Publication currently in pre-print: Samocha et al bioRxiv 2017 (TBD)
+ 
+ The MPC score file is available to download from:
+
+ ftp://ftp.broadinstitute.org/pub/ExAC_release/release1/regional_missense_constraint/
+
+ The data are currently mapped to GRCh37 only. Not all transcripts are included; see
+ README in the above directory for exclusion criteria.
+ 
+=cut
+
+package MPC;
+
+use strict;
+use warnings;
+
+use Bio::EnsEMBL::Utils::Sequence qw(reverse_comp);
+
+use Bio::EnsEMBL::Variation::Utils::BaseVepTabixPlugin;
+
+use base qw(Bio::EnsEMBL::Variation::Utils::BaseVepTabixPlugin);
+
+my %INCLUDE_SO = map {$_ => 1} qw(missense_variant stop_lost stop_gained start_lost);
+
+sub new {
+  my $class = shift;
+  
+  my $self = $class->SUPER::new(@_);
+
+  $self->expand_left(0);
+  $self->expand_right(0);
+
+  $self->get_user_params();
+
+  return $self;
+}
+
+sub feature_types {
+  return ['Transcript'];
+}
+
+sub get_header_info {
+  return { MPC => 'MPC score' };
+}
+
+sub run {
+  my ($self, $tva) = @_;
+  
+  # only for missense variants
+  return {} unless grep {$INCLUDE_SO{$_->SO_term}} @{$tva->get_all_OverlapConsequences};
+  
+  my $vf = $tva->variation_feature;
+  
+  return {} unless $vf->{start} eq $vf->{end};
+  
+  # get allele, reverse comp if needed
+  my $allele = $tva->variation_feature_seq;
+  reverse_comp(\$allele) if $vf->{strand} < 0;
+  
+  return {} unless $allele =~ /^[ACGT]$/;
+  
+  # get transcript stable ID
+  my $tr_id = $tva->transcript->stable_id;
+
+  my ($res) = grep {
+    $_->{pos} == $vf->{start} &&
+    $_->{alt} eq $allele &&
+    $_->{tr}  eq $tr_id
+  } @{$self->get_data($vf->{chr}, $vf->{start}, $vf->{end})};
+
+  return $res ? { MPC => $res->{MPC} } : {};
+}
+
+sub parse_data {
+  my ($self, $line) = @_;
+
+  my @split = split /\t/, $line;
+
+  return {
+    pos => $split[1],
+    alt => $split[3],
+    tr  => $split[5],
+    MPC => $split[-1],
+  };
+}
+
+sub get_start {
+  return $_[1]->{pos};
+}
+
+sub get_end {
+  return $_[1]->{pos};
+}
+
+1;