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Tighter default max-filter-ac of 10
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ckandoth committed Dec 9, 2016
1 parent bebc30b commit be943f6
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Showing 3 changed files with 5 additions and 5 deletions.
2 changes: 1 addition & 1 deletion docs/vep_maf_readme.txt
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Expand Up @@ -124,7 +124,7 @@ These are some other columns to help shortlist variants worth looking into:
73. PolyPhen - the PolyPhen prediction and/or score.
109. FILTER - False-positive filtering status, copied from the input MAF/VCF. An additional filter
named common_variant is also appended, if allele count across at least one ExAC subpopulation
is >16 (this default cutoff can be changed when running vcf2maf). So if you're handling
is >10 (this default cutoff can be changed when running vcf2maf). So if you're handling
somatic variants, the common_variant tag means this is likely a false-positive. It is less
likely to be a legit somatic variant at a site that ExAC classifies as germline or artifact.
123. ExAC_FILTER - FILTER tags copied from the ExAC VCF. Differentiates between what ExAC classifies
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4 changes: 2 additions & 2 deletions maf2maf.pl
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Expand Up @@ -17,7 +17,7 @@
my ( $nrm_depth_col, $nrm_rad_col, $nrm_vad_col ) = qw( n_depth n_ref_count n_alt_count );
my ( $vep_path, $vep_data, $vep_forks ) = ( "$ENV{HOME}/vep", "$ENV{HOME}/.vep", 4 );
my ( $ref_fasta, $filter_vcf ) = ( "$ENV{HOME}/.vep/homo_sapiens/86_GRCh37/Homo_sapiens.GRCh37.75.dna.primary_assembly.fa.gz", "$ENV{HOME}/.vep/ExAC_nonTCGA.r0.3.1.sites.vep.vcf.gz" );
my ( $species, $ncbi_build, $cache_version, $maf_center, $min_hom_vaf, $max_filter_ac ) = ( "homo_sapiens", "GRCh37", "", ".", 0.7, 11 );
my ( $species, $ncbi_build, $cache_version, $maf_center, $min_hom_vaf, $max_filter_ac ) = ( "homo_sapiens", "GRCh37", "", ".", 0.7, 10 );
my $perl_bin = $Config{perlpath};

# Columns that can be safely borrowed from the input MAF
Expand Down Expand Up @@ -370,7 +370,7 @@ =head1 OPTIONS
--vep-data VEP's base cache/plugin directory [~/.vep]
--vep-forks Number of forked processes to use when running VEP [4]
--filter-vcf The non-TCGA VCF from exac.broadinstitute.org [~/.vep/ExAC_nonTCGA.r0.3.1.sites.vep.vcf.gz]
--max-filter-ac Use tag common_variant if the filter-vcf reports a subpopulation AC higher than this [11]
--max-filter-ac Use tag common_variant if the filter-vcf reports a subpopulation AC higher than this [10]
--species Ensembl-friendly name of species (e.g. mus_musculus for mouse) [homo_sapiens]
--ncbi-build NCBI reference assembly of variants in MAF (e.g. GRCm38 for mouse) [GRCh37]
--cache-version Version of offline cache to use with VEP (e.g. 75, 82, 86) [Default: Installed version]
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4 changes: 2 additions & 2 deletions vcf2maf.pl
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Expand Up @@ -14,7 +14,7 @@
my ( $tumor_id, $normal_id ) = ( "TUMOR", "NORMAL" );
my ( $vep_path, $vep_data, $vep_forks ) = ( "$ENV{HOME}/vep", "$ENV{HOME}/.vep", 4 );
my ( $ref_fasta, $filter_vcf ) = ( "$ENV{HOME}/.vep/homo_sapiens/86_GRCh37/Homo_sapiens.GRCh37.75.dna.primary_assembly.fa.gz", "$ENV{HOME}/.vep/ExAC_nonTCGA.r0.3.1.sites.vep.vcf.gz" );
my ( $species, $ncbi_build, $cache_version, $maf_center, $retain_info, $min_hom_vaf, $max_filter_ac ) = ( "homo_sapiens", "GRCh37", "", ".", "", 0.7, 11 );
my ( $species, $ncbi_build, $cache_version, $maf_center, $retain_info, $min_hom_vaf, $max_filter_ac ) = ( "homo_sapiens", "GRCh37", "", ".", "", 0.7, 10 );
my $perl_bin = $Config{perlpath};

# Find out if samtools and tabix are properly installed, and warn the user if it's not
Expand Down Expand Up @@ -935,7 +935,7 @@ =head1 OPTIONS
--vep-forks Number of forked processes to use when running VEP [4]
--ref-fasta Reference FASTA file [~/.vep/homo_sapiens/86_GRCh37/Homo_sapiens.GRCh37.75.dna.primary_assembly.fa.gz]
--filter-vcf The non-TCGA VCF from exac.broadinstitute.org [~/.vep/ExAC_nonTCGA.r0.3.1.sites.vep.vcf.gz]
--max-filter-ac Use tag common_variant if the filter-vcf reports a subpopulation AC higher than this [11]
--max-filter-ac Use tag common_variant if the filter-vcf reports a subpopulation AC higher than this [10]
--species Ensembl-friendly name of species (e.g. mus_musculus for mouse) [homo_sapiens]
--ncbi-build NCBI reference assembly of variants MAF (e.g. GRCm38 for mouse) [GRCh37]
--cache-version Version of offline cache to use with VEP (e.g. 75, 82, 86) [Default: Installed version]
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