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Update gnomad v4.1 sub populations in relevant places #1756

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Sep 23, 2024
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4 changes: 1 addition & 3 deletions .travis.yml
Original file line number Diff line number Diff line change
Expand Up @@ -57,9 +57,7 @@ install:
- cd $DEPS
- $CWD/travisci/build_c.sh
- cd $CWD
- cpanm --quiet --installdeps --with-recommends --notest --cpanfile ensembl/cpanfile .
- cpanm --quiet --installdeps --with-recommends --notest .
- if [[ "$COVERALLS" = 'true' && ! "${TRAVIS_PERL_VERSION}" =~ '5.10' ]]; then cpanm --quiet -n Devel::Cover::Report::Coveralls; fi
- $CWD/travisci/install_dependencies.sh
- cp travisci/MultiTestDB.conf.travisci t/MultiTestDB.conf

script: "./travisci/harness.sh"
Expand Down
11 changes: 6 additions & 5 deletions modules/Bio/EnsEMBL/VEP/Constants.pm
Original file line number Diff line number Diff line change
Expand Up @@ -116,9 +116,9 @@ our @FLAG_FIELDS = (
# frequency stuff
{ flag => 'af', fields => ['AF'] },
{ flag => 'af_1kg', fields => ['AF','AFR_AF','AMR_AF','EAS_AF','EUR_AF','SAS_AF'] },
{ flag => 'af_gnomad', fields => ['gnomADe_AF','gnomADe_AFR_AF','gnomADe_AMR_AF','gnomADe_ASJ_AF','gnomADe_EAS_AF','gnomADe_FIN_AF','gnomADe_NFE_AF','gnomADe_OTH_AF','gnomADe_SAS_AF'] },
{ flag => 'af_gnomade', fields => ['gnomADe_AF','gnomADe_AFR_AF','gnomADe_AMR_AF','gnomADe_ASJ_AF','gnomADe_EAS_AF','gnomADe_FIN_AF','gnomADe_NFE_AF','gnomADe_OTH_AF','gnomADe_SAS_AF'] },
{ flag => 'af_gnomadg', fields => ['gnomADg_AF','gnomADg_AFR_AF', ,'gnomADg_AMI_AF', 'gnomADg_AMR_AF','gnomADg_ASJ_AF','gnomADg_EAS_AF','gnomADg_FIN_AF','gnomADg_MID_AF','gnomADg_NFE_AF','gnomADg_OTH_AF','gnomADg_SAS_AF'] },
{ flag => 'af_gnomad', fields => ['gnomADe_AF','gnomADe_AFR_AF','gnomADe_AMR_AF','gnomADe_ASJ_AF','gnomADe_EAS_AF','gnomADe_FIN_AF', 'gnomADe_MID_AF', 'gnomADe_NFE_AF','gnomADe_REMAINING_AF','gnomADe_SAS_AF'] },
{ flag => 'af_gnomade', fields => ['gnomADe_AF','gnomADe_AFR_AF','gnomADe_AMR_AF','gnomADe_ASJ_AF','gnomADe_EAS_AF','gnomADe_FIN_AF', 'gnomADe_MID_AF', 'gnomADe_NFE_AF','gnomADe_REMAINING_AF','gnomADe_SAS_AF'] },
{ flag => 'af_gnomadg', fields => ['gnomADg_AF','gnomADg_AFR_AF', ,'gnomADg_AMI_AF', 'gnomADg_AMR_AF','gnomADg_ASJ_AF','gnomADg_EAS_AF','gnomADg_FIN_AF','gnomADg_MID_AF','gnomADg_NFE_AF','gnomADg_REMAINING_AF','gnomADg_SAS_AF'] },
{ flag => 'max_af', fields => ['MAX_AF', 'MAX_AF_POPS'] },
{ flag => 'check_frequency', fields => ['FREQS'] },

Expand Down Expand Up @@ -217,8 +217,9 @@ our %FIELD_DESCRIPTIONS = (
'gnomADe_ASJ_AF', => 'Frequency of existing variant in gnomAD exomes Ashkenazi Jewish population',
'gnomADe_EAS_AF', => 'Frequency of existing variant in gnomAD exomes East Asian population',
'gnomADe_FIN_AF', => 'Frequency of existing variant in gnomAD exomes Finnish population',
'gnomADe_MID_AF', => 'Frequency of existing variant in gnomAD exomes Mid-eastern population',
'gnomADe_NFE_AF', => 'Frequency of existing variant in gnomAD exomes Non-Finnish European population',
'gnomADe_OTH_AF', => 'Frequency of existing variant in gnomAD exomes other combined populations',
'gnomADe_REMAINING_AF', => 'Frequency of existing variant in gnomAD exomes remaining combined populations',
'gnomADe_SAS_AF', => 'Frequency of existing variant in gnomAD exomes South Asian population',
'gnomADg_AF', => 'Frequency of existing variant in gnomAD genomes combined population',
'gnomADg_AFR_AF', => 'Frequency of existing variant in gnomAD genomes African/American population',
Expand All @@ -229,7 +230,7 @@ our %FIELD_DESCRIPTIONS = (
'gnomADg_FIN_AF', => 'Frequency of existing variant in gnomAD genomes Finnish population',
'gnomADg_MID_AF', => 'Frequency of existing variant in gnomAD genomes Mid-eastern population',
'gnomADg_NFE_AF', => 'Frequency of existing variant in gnomAD genomes Non-Finnish European population',
'gnomADg_OTH_AF', => 'Frequency of existing variant in gnomAD genomes other combined populations',
'gnomADg_REMAINING_AF', => 'Frequency of existing variant in gnomAD genomes remaining combined populations',
'gnomADg_SAS_AF', => 'Frequency of existing variant in gnomAD genomes South Asian population',
'MAX_AF', => 'Maximum observed allele frequency in 1000 Genomes, ESP and ExAC/gnomAD',
'MAX_AF_POPS' => 'Populations in which maximum allele frequency was observed',
Expand Down
6 changes: 3 additions & 3 deletions modules/Bio/EnsEMBL/VEP/OutputFactory.pm
Original file line number Diff line number Diff line change
Expand Up @@ -107,9 +107,9 @@ my %DISTANCE_CONS = (upstream_gene_variant => 1, downstream_gene_variant => 1);
my %FREQUENCY_KEYS = (
af => ['AF'],
af_1kg => [qw(AF AFR AMR ASN EAS EUR SAS)],
af_gnomad => [('gnomADe', map {'gnomADe_'.$_} qw(AFR AMR ASJ EAS FIN NFE OTH SAS))],
af_gnomade => [('gnomADe', map {'gnomADe_'.$_} qw(AFR AMR ASJ EAS FIN NFE OTH SAS))],
af_gnomadg => [('gnomADg', map {'gnomADg_'.$_} qw(AFR AMI AMR ASJ EAS FIN MID NFE OTH SAS))],
af_gnomad => [('gnomADe', map {'gnomADe_'.$_} qw(AFR AMR ASJ EAS FIN MID NFE REMAINING SAS))],
af_gnomade => [('gnomADe', map {'gnomADe_'.$_} qw(AFR AMR ASJ EAS FIN MID NFE REMAINING SAS))],
af_gnomadg => [('gnomADg', map {'gnomADg_'.$_} qw(AFR AMI AMR ASJ EAS FIN MID NFE REMAINING SAS))],
);


Expand Down
4 changes: 2 additions & 2 deletions modules/Bio/EnsEMBL/VEP/OutputFactory/JSON.pm
Original file line number Diff line number Diff line change
Expand Up @@ -129,8 +129,8 @@ my @FREQ_FIELDS = qw(
AF AFR AMR ASN EAS SAS EUR
AA EA
ExAC ExAC_Adj ExAC_AFR ExAC_AMR ExAC_EAS ExAC_FIN ExAC_NFE ExAC_OTH ExAC_SAS
gnomADe gnomADe_AFR gnomADe_AMR gnomADe_ASJ gnomADe_EAS gnomADe_FIN gnomADe_NFE gnomADe_OTH gnomADe_SAS
gnomADg gnomADg_AFR gnomADg_AMI gnomADg_AMR gnomADg_ASJ gnomADg_EAS gnomADg_FIN gnomADg_MID gnomADg_NFE gnomADg_OTH gnomADg_SAS
gnomADe gnomADe_AFR gnomADe_AMR gnomADe_ASJ gnomADe_EAS gnomADe_FIN gnomADe_MID gnomADe_NFE gnomADe_REMAINING gnomADe_SAS
gnomADg gnomADg_AFR gnomADg_AMI gnomADg_AMR gnomADg_ASJ gnomADg_EAS gnomADg_FIN gnomADg_MID gnomADg_NFE gnomADg_REMAINING gnomADg_SAS
);


Expand Down
2 changes: 1 addition & 1 deletion modules/Bio/EnsEMBL/VEP/Pipeline/DumpVEP/QCDump.pm
Original file line number Diff line number Diff line change
Expand Up @@ -583,7 +583,7 @@ sub human_frequency_checks {
af_gnomad => 1,
af_gnomade => 1,
af_gnomadg => 1,
fields => 'Uploaded_variation,AF,AFR_AF,AMR_AF,EAS_AF,EUR_AF,SAS_AF,AA_AF,EA_AF,gnomADe_AF,gnomADe_AFR_AF,gnomADe_AMR_AF,gnomADe_ASJ_AF,gnomADe_EAS_AF,gnomADe_FIN_AF,gnomADe_NFE_AF,gnomADe_OTH_AF,gnomADe_SAS_AF,gnomADg_AF,gnomADg_AFR_AF,gnomADg_AMI_AF,gnomADg_AMR_AF,gnomADg_ASJ_AF,gnomADg_EAS_AF,gnomADg_FIN_AF,gnomADg_MID_AF,gnomADg_NFE_AF,gnomADg_OTH_AF,gnomADg_SAS_AF',
fields => 'Uploaded_variation,AF,AFR_AF,AMR_AF,EAS_AF,EUR_AF,SAS_AF,AA_AF,EA_AF,gnomADe_AF,gnomADe_AFR_AF,gnomADe_AMR_AF,gnomADe_ASJ_AF,gnomADe_EAS_AF,gnomADe_FIN_AF,gnomADe_MID_AF,gnomADe_NFE_AF,gnomADe_REMAINING_AF,gnomADe_SAS_AF,gnomADg_AF,gnomADg_AFR_AF,gnomADg_AMI_AF,gnomADg_AMR_AF,gnomADg_ASJ_AF,gnomADg_EAS_AF,gnomADg_FIN_AF,gnomADg_MID_AF,gnomADg_NFE_AF,gnomADg_REMAINING_AF,gnomADg_SAS_AF',
buffer_size => 1,
pick => 1,
failed => 1,
Expand Down
6 changes: 4 additions & 2 deletions t/AnnotationSource_Cache_Variation.t
Original file line number Diff line number Diff line change
Expand Up @@ -296,12 +296,13 @@ is_deeply($vf->{existing}, [
'gnomADe_AFR' => 'T:0.004643',
'minor_allele_freq' => '0.0010',
'AMR' => 'T:0.0014',
'gnomADe_OTH' => 'T:0',
'gnomADe_REMAINING' => 'T:0',
'gnomADe_EAS' => 'T:0',
'EUR' => 'T:0',
'clin_sig' => '',
'EAS' => 'T:0',
'end' => 25585733,
'gnomADe_MID' => 'T:0',
'gnomADe_NFE' => 'T:1.886e-05',
'variation_name' => 'rs142513484',
'minor_allele' => 'T',
Expand Down Expand Up @@ -352,12 +353,13 @@ is_deeply(
'gnomADe_AFR' => 'T:0',
'minor_allele_freq' => '0.0002',
'AMR' => 'T:0.0014',
'gnomADe_OTH' => 'T:0.0001823',
'gnomADe_REMAINING' => 'T:0.0001823',
'gnomADe_EAS' => 'T:0',
'EUR' => 'T:0',
'clin_sig' => 'uncertain_significance,not_provided,pathogenic',
'EAS' => 'T:0',
'end' => 25891796,
'gnomADe_MID' => 'T:0',
'gnomADe_NFE' => 'T:2.687e-05',
'variation_name' => 'rs63750066',
'minor_allele' => 'T',
Expand Down
9 changes: 6 additions & 3 deletions t/AnnotationSource_Cache_VariationTabix.t
Original file line number Diff line number Diff line change
Expand Up @@ -80,12 +80,13 @@ my $exp = [{
'minor_allele_freq' => '0.0010',
'AMR' => 'T:0.0014',
'chr' => '21',
'gnomADe_OTH' => 'T:0',
'gnomADe_REMAINING' => 'T:0',
'gnomADe_EAS' => 'T:0',
'EUR' => 'T:0',
'clin_sig' => undef,
'EAS' => 'T:0',
'end' => 25585733,
'gnomADe_MID' => 'T:0',
'gnomADe_NFE' => 'T:1.886e-05',
'variation_name' => 'rs142513484',
'minor_allele' => 'T',
Expand Down Expand Up @@ -197,12 +198,13 @@ SKIP: {
'minor_allele_freq' => undef,
'AMR' => undef,
'chr' => '21',
'gnomADe_OTH' => undef,
'gnomADe_REMAINING' => undef,
'gnomADe_EAS' => undef,
'EUR' => undef,
'clin_sig' => undef,
'EAS' => undef,
'end' => 25891796,
'gnomADe_MID' => undef,
'gnomADe_NFE' => undef,
'variation_name' => 'CM930033',
'minor_allele' => undef,
Expand All @@ -228,12 +230,13 @@ SKIP: {
'minor_allele_freq' => '0.0002',
'AMR' => 'T:0.0014',
'chr' => '21',
'gnomADe_OTH' => 'T:0.0001823',
'gnomADe_REMAINING' => 'T:0.0001823',
'gnomADe_EAS' => 'T:0',
'EUR' => 'T:0',
'clin_sig' => 'not_provided,pathogenic',
'EAS' => 'T:0',
'end' => 25891796,
'gnomADe_MID' => 'T:0',
'gnomADe_NFE' => 'T:2.687e-05',
'variation_name' => 'rs63750066',
'minor_allele' => 'T',
Expand Down
3 changes: 2 additions & 1 deletion t/CacheDir.t
Original file line number Diff line number Diff line change
Expand Up @@ -210,8 +210,9 @@ is_deeply(
'gnomADe_ASJ',
'gnomADe_EAS',
'gnomADe_FIN',
'gnomADe_MID',
'gnomADe_NFE',
'gnomADe_OTH',
'gnomADe_REMAINING',
'gnomADe_SAS',
'var_synonyms',
'AF'
Expand Down
5 changes: 4 additions & 1 deletion t/OutputFactory.t
Original file line number Diff line number Diff line change
Expand Up @@ -772,7 +772,7 @@ is_deeply(
'gnomADe_AF' => [
'9.75e-05'
],
'gnomADe_OTH_AF' => [
'gnomADe_REMAINING_AF' => [
'0.0001823'
],
'gnomADe_AFR_AF' => [
Expand All @@ -792,6 +792,9 @@ is_deeply(
],
'gnomADe_ASJ_AF' => [
'0'
],
'gnomADe_MID_AF' => [
'0'
]
},
'add_colocated_frequency_data - af_gnomad',
Expand Down
11 changes: 7 additions & 4 deletions t/OutputFactory_JSON.t
Original file line number Diff line number Diff line change
Expand Up @@ -133,7 +133,7 @@ SKIP: {
'amr' => '0.0014',
'gnomade_sas' => '0',
'gnomade' => '0.0003478',
'gnomade_oth' => '0',
'gnomade_remaining' => '0',
'gnomade_asj' => '0',
'gnomade_nfe' => '1.886e-05',
'gnomade_afr' => '0.004643',
Expand All @@ -142,6 +142,7 @@ SKIP: {
'gnomade_fin' => '0',
'sas' => '0',
'gnomade_eas' => '0',
'gnomade_mid' => '0',
'eur' => '0',
'eas' => '0'
}
Expand Down Expand Up @@ -201,10 +202,11 @@ SKIP: {
'gnomade_fin' => '0',
'gnomade_amr' => '0',
'gnomade' => '7.313e-05',
'gnomade_oth' => '0',
'gnomade_remaining' => '0',
'gnomade_asj' => '0',
'gnomade_eas' => '0',
'gnomade_nfe' => '0.0001433'
'gnomade_nfe' => '0.0001433',
'gnomade_mid' => '0'
}
},
'end' => '25891785',
Expand Down Expand Up @@ -319,7 +321,7 @@ SKIP: {
'amr' => 0.0014,
'gnomade_sas' => 0,
'gnomade' => 0.0003478,
'gnomade_oth' => 0,
'gnomade_remaining' => 0,
'gnomade_asj' => 0,
'gnomade_nfe' => 1.886e-05,
'gnomade_afr' => 0.004643,
Expand All @@ -328,6 +330,7 @@ SKIP: {
'gnomade_fin' => 0,
'sas' => 0,
'gnomade_eas' => 0,
'gnomade_mid' => 0,
'eur' => 0,
'eas' => 0
}
Expand Down
2 changes: 1 addition & 1 deletion t/OutputFactory_Tab.t
Original file line number Diff line number Diff line change
Expand Up @@ -256,7 +256,7 @@ is(
"-\t-\t-\t-\trs142513484\tMODIFIER\t-\t-1\t-\tSNV\tMRPL39\tHGNC\tHGNC:14027\tprotein_coding\tYES\t-\t-\t-\t5\t-\t".
"CCDS33522.1\tENSP00000305682\tQ9NYK5\t-\tUPI00001AEAC0\t-\t-\t-\t-\t11/11\t-\t-\t-\tENST00000307301.11:c.*18G>A\t".
"-\t-\t0.0010\t0.003\t0.0014\t0\t0\t0\t".
"0.0003478\t0.004643\t0.0003236\t0\t0\t0\t1.886e-05\t0\t0\t".
"0.0003478\t0.004643\t0.0003236\t0\t0\t0\t0\t1.886e-05\t0\t0\t".
"-\t-\t-\t-\t-\t-\t-\t-\t-\t".
"-\t-\t0.004643\tgnomADe_AFR\t-\t-\t-\t-\t-\t-\t-\t-\t-",
'get_all_lines_by_InputBuffer - everything'
Expand Down
6 changes: 3 additions & 3 deletions t/OutputFactory_VCF.t
Original file line number Diff line number Diff line change
Expand Up @@ -351,14 +351,14 @@ is(
'21 25585733 rs142513484 C T . . CSQ=T|3_prime_UTR_variant'.
'|MODIFIER|MRPL39|ENSG00000154719|Transcript|ENST00000307301|protein_coding|11/11||ENST00000307301.11:c.*18G>A||1122|'.
'||||rs142513484||-1||SNV|HGNC|HGNC:14027|YES||||5||CCDS33522.1|ENSP00000305682|Q9NYK5||UPI00001AEAC0|'.
'|||||||0.0010|0.003|0.0014|0|0|0|0.0003478|0.004643|0.0003236|0|0|0|1.886e-05|0|0||||||||||||0.004643|gnomADe_AFR||'.
'|||||||0.0010|0.003|0.0014|0|0|0|0.0003478|0.004643|0.0003236|0|0|0|0|1.886e-05|0|0||||||||||||0.004643|gnomADe_AFR||'.
'|||||||,T|missense_variant|MODERATE|MRPL39|ENSG00000154719|Transcript|ENST00000352957|protein_coding|10/10|'.
'|ENST00000352957.8:c.991G>A|ENSP00000284967.6:p.Ala331Thr|1033|991|331|A/T|Gca/Aca|rs142513484||-1||SNV|HGNC'.
'|HGNC:14027|||||1|P1|CCDS13573.1|ENSP00000284967|Q9NYK5||UPI00001AEE66|||tolerated_low_confidence(0.17)|benign(0.001)'.
'||||0.0010|0.003|0.0014|0|0|0|0.0003478|0.004643|0.0003236|0|0|0|1.886e-05|0|0||||||||||||0.004643|gnomADe_AFR|||||||||,T'.
'||||0.0010|0.003|0.0014|0|0|0|0.0003478|0.004643|0.0003236|0|0|0|0|1.886e-05|0|0||||||||||||0.004643|gnomADe_AFR|||||||||,T'.
'|upstream_gene_variant|MODIFIER|AP000223.1|ENSG00000260583|Transcript|ENST00000567517|antisense||||||||||rs142513484'.
'|2407|-1||SNV|Clone_based_ensembl_gene||YES||||||||||||||||||0.0010|0.003|0.0014|0|0|0|0.0003478|0.004643'.
'|0.0003236|0|0|0|1.886e-05|0|0||||||||||||0.004643|gnomADe_AFR||||||||| GT 0|0'
'|0.0003236|0|0|0|0|1.886e-05|0|0||||||||||||0.004643|gnomADe_AFR||||||||| GT 0|0'
,'get_all_lines_by_InputBuffer - everything'
);

Expand Down
2 changes: 1 addition & 1 deletion t/OutputFactory_VEP_output.t
Original file line number Diff line number Diff line change
Expand Up @@ -217,7 +217,7 @@ is(
'HGVSc=ENST00000307301.11:c.*18G>A;'.
'AF=0.0010;AFR_AF=0.003;AMR_AF=0.0014;EAS_AF=0;EUR_AF=0;SAS_AF=0;'.
'gnomADe_AF=0.0003478;gnomADe_AFR_AF=0.004643;gnomADe_AMR_AF=0.0003236;gnomADe_ASJ_AF=0;'.
'gnomADe_EAS_AF=0;gnomADe_FIN_AF=0;gnomADe_NFE_AF=1.886e-05;gnomADe_OTH_AF=0;gnomADe_SAS_AF=0;MAX_AF=0.004643;MAX_AF_POPS=gnomADe_AFR',
'gnomADe_EAS_AF=0;gnomADe_FIN_AF=0;gnomADe_MID_AF=0;gnomADe_NFE_AF=1.886e-05;gnomADe_REMAINING_AF=0;gnomADe_SAS_AF=0;MAX_AF=0.004643;MAX_AF_POPS=gnomADe_AFR',
'get_all_lines_by_InputBuffer - everything'
);

Expand Down
2 changes: 1 addition & 1 deletion t/VEPTestingConfig.pm
Original file line number Diff line number Diff line change
Expand Up @@ -35,7 +35,7 @@ our %DEFAULTS = (
allele_string strand minor_allele minor_allele_freq
clin_sig phenotype_or_disease pubmed
AFR AMR EAS EUR SAS AA EA
gnomADe gnomADe_AFR gnomADe_AMR gnomADe_ASJ gnomADe_EAS gnomADe_FIN gnomADe_NFE gnomADe_OTH gnomADe_SAS
gnomADe gnomADe_AFR gnomADe_AMR gnomADe_ASJ gnomADe_EAS gnomADe_FIN gnomADe_MID gnomADe_NFE gnomADe_REMAINING gnomADe_SAS
)],

chr_synonyms => $Bin.'/testdata/chr_synonyms.txt',
Expand Down
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Binary file modified t/testdata/cache/homo_sapiens/84_GRCh38/LRG_485/1-1000000_var.gz
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2 changes: 1 addition & 1 deletion t/testdata/cache/homo_sapiens/84_GRCh38/info.txt
Original file line number Diff line number Diff line change
Expand Up @@ -12,7 +12,7 @@ source_gencode GENCODE 24
source_genebuild 2014-07
source_regbuild 13.0
source_assembly GRCh38.p5
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,gnomADe,gnomADe_AFR,gnomADe_AMR,gnomADe_ASJ,gnomADe_EAS,gnomADe_FIN,gnomADe_NFE,gnomADe_OTH,gnomADe_SAS,var_synonyms,AF
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,gnomADe,gnomADe_AFR,gnomADe_AMR,gnomADe_ASJ,gnomADe_EAS,gnomADe_FIN,gnomADe_MID,gnomADe_NFE,gnomADe_REMAINING,gnomADe_SAS,var_synonyms,AF
source_COSMIC 80
source_HGMD-PUBLIC 20164
source_ESP 20141103
Expand Down
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2 changes: 1 addition & 1 deletion t/testdata/cache/sereal/homo_sapiens/84_GRCh38/info.txt
Original file line number Diff line number Diff line change
Expand Up @@ -13,7 +13,7 @@ source_gencode GENCODE 24
source_genebuild 2014-07
source_regbuild 13.0
source_assembly GRCh38.p5
variation_cols chr,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
variation_cols chr,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_MID,gnomAD_NFE,gnomAD_REMAINING,gnomAD_SAS
var_type tabix
source_COSMIC 80
source_HGMD-PUBLIC 20164
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15 changes: 15 additions & 0 deletions travisci/install_dependencies.sh
Original file line number Diff line number Diff line change
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#!/bin/bash

if [[ "$COVERALLS" = 'true' && ! "${TRAVIS_PERL_VERSION}" =~ '5.10' ]]
then
sed -i '/Devel::Cover/d' ensembl/cpanfile
sed -i '/Devel::Cover/d' cpanfile
fi

cpanm --quiet --installdeps --with-recommends --notest --cpanfile ensembl/cpanfile .
cpanm --quiet --installdeps --with-recommends --notest .

if [[ "$COVERALLS" = 'true' && ! "${TRAVIS_PERL_VERSION}" =~ '5.10' ]]
then
cpanm --quiet -n Devel::Cover::Report::Coveralls
fi