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Update VEP JSON output for var_synonyms (#915)
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+24
-4
lines changed

5 files changed

+24
-4
lines changed

modules/Bio/EnsEMBL/VEP/OutputFactory/JSON.pm

+14-1
Original file line numberDiff line numberDiff line change
@@ -121,6 +121,7 @@ my %NUMBERIFY_EXEMPT = (
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my @LIST_FIELDS = qw(
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clin_sig
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pubmed
124+
var_synonyms
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);
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126127

@@ -418,7 +419,19 @@ sub add_colocated_variant_info_JSON {
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# lists
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foreach my $field(grep {defined($ex->{$_})} @LIST_FIELDS) {
421-
$ex->{$field} = [split(',', $ex->{$field})];
422+
if($field eq 'var_synonyms'){
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my @source_list = split('--', $ex->{$field});
424+
my %output_hash = ();
425+
foreach my $syn_source(@source_list){
426+
my @split = split('::', $syn_source);
427+
my @syns = split(',', $split[1]);
428+
$output_hash{$split[0]} = \@syns;
429+
}
430+
$ex->{$field} = \%output_hash;
431+
}
432+
else{
433+
$ex->{$field} = [split(',', $ex->{$field})];
434+
}
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}
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push @{$hash->{colocated_variants}}, $ex;

t/CacheDir.t

+2-1
Original file line numberDiff line numberDiff line change
@@ -205,7 +205,8 @@ is_deeply(
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'gnomAD_FIN',
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'gnomAD_NFE',
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'gnomAD_OTH',
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'gnomAD_SAS'
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'gnomAD_SAS',
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'var_synonyms'
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],
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'assembly' => 'GRCh38',
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'valid_chromosomes' => [21, 22, 'LRG_485'],

t/OutputFactory_JSON.t

+7-1
Original file line numberDiff line numberDiff line change
@@ -156,6 +156,9 @@ SKIP: {
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'start' => 25585733,
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'strand' => 1,
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'allele_string' => 'C/T',
159+
'var_synonyms' => {
160+
'ClinVar' => ['TEST']
161+
},
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'pubmed' => [10, 20, 30],
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'clin_sig' => ["pathogenic", "benign"],
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}
@@ -288,6 +291,9 @@ SKIP: {
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'start' => 25585733,
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'strand' => 1,
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'allele_string' => 'C/T',
294+
'var_synonyms' => {
295+
'ClinVar' => ['TEST']
296+
},
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}
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],
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'assembly_name' => 'GRCh38',
@@ -382,7 +388,7 @@ SKIP: {
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'id' => 'rs142513484',
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'allele_string' => 'C/T',
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'most_severe_consequence' => 'missense_variant',
385-
'start' => 25585733
391+
'start' => 25585733,
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},
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'get_all_lines_by_InputBuffer - everything'
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);
Binary file not shown.

t/testdata/cache/homo_sapiens/84_GRCh38/info.txt

+1-1
Original file line numberDiff line numberDiff line change
@@ -12,7 +12,7 @@ source_gencode GENCODE 24
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source_genebuild 2014-07
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source_regbuild 13.0
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source_assembly GRCh38.p5
15-
variation_cols variation_name,failed,somatic,start,end,allele_string,strand,minor_allele,minor_allele_freq,clin_sig,phenotype_or_disease,pubmed,AFR,AMR,EAS,EUR,SAS,AA,EA,gnomAD,gnomAD_AFR,gnomAD_AMR,gnomAD_ASJ,gnomAD_EAS,gnomAD_FIN,gnomAD_NFE,gnomAD_OTH,gnomAD_SAS
15+
variation_cols variation_name,failed,somatic,start,end,allele_string,strand,minor_allele,minor_allele_freq,clin_sig,phenotype_or_disease,pubmed,AFR,AMR,EAS,EUR,SAS,AA,EA,gnomAD,gnomAD_AFR,gnomAD_AMR,gnomAD_ASJ,gnomAD_EAS,gnomAD_FIN,gnomAD_NFE,gnomAD_OTH,gnomAD_SAS,var_synonyms
1616
source_COSMIC 80
1717
source_HGMD-PUBLIC 20164
1818
source_ESP 20141103

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