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Fix inheritance computing with skipCaseWT option , Update ACMG genes …
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thomasguignard authored Oct 9, 2023
1 parent 4528f8d commit 2eed007
Showing 1 changed file with 8 additions and 3 deletions.
11 changes: 8 additions & 3 deletions wwwachab.pl
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\n--gnomadExome <comma separated list of gnomad exome annotation fields that will be displayed as gnomAD comments. (default fields are hard-coded gnomAD_exome_ALL like) >
\n\n-v|--version < return version number and exit > ";

my $versionOut = "achab version www:1.0.8";
my $versionOut = "achab version www:1.0.9";

#################################### VARIABLES INIT ########################

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#Hash of 78 ACMG incidentalome genes secondary findings SF v3.1 https://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/
my %ACMGgene = ("ACTA2" =>1,"ACTC1" =>1,"ACVRL1" =>1,"APC" =>1,"APOB" =>1,"ATP7B" =>1,"BAG3" =>1,"BMPR1A" =>1,"BRCA1" =>1,"BRCA2" =>1,"BTD" =>1,"CACNA1S" =>1,"CASQ2" =>1,"COL3A1" =>1,"DES" =>1,"DSC2" =>1,"DSG2" =>1,"DSP" =>1,"ENG" =>1,"FBN1" =>1,"FLNC" =>1,"GAA" =>1,"GLA" =>1,"HFE" =>1,"HNF1A" =>1,"KCNH2" =>1,"KCNQ1" =>1,"LDLR" =>1,"LMNA" =>1,"MAX" =>1,"MEN1" =>1,"MLH1" =>1,"MSH2" =>1,"MSH6" =>1,"MUTYH" =>1,"MYBPC3" =>1,"MYH11" =>1,"MYH7" =>1,"MYL2" =>1,"MYL3" =>1,"NF2" =>1,"OTC" =>1,"PALB2" =>1,"PCSK9" =>1,"PKP2" =>1,"PMS2" =>1,"PRKAG2" =>1,"PTEN" =>1,"RB1" =>1,"RBM20" =>1,"RET" =>1,"RPE65" =>1,"RYR1" =>1,"RYR2" =>1,"SCN5A" =>1,"SDHAF2" =>1,"SDHB" =>1,"SDHC" =>1,"SDHD" =>1,"SMAD3" =>1,"SMAD4" =>1,"STK11" =>1,"TGFBR1" =>1,"TGFBR2" =>1,"TMEM127" =>1,"TMEM43" =>1,"TNNC1" =>1,"TNNI3" =>1,"TNNT2" =>1,"TP53" =>1,"TPM1" =>1,"TRDN" =>1,"TSC1" =>1,"TSC2" =>1,"TTN" =>1,"TTR" =>1,"VHL" =>1,"WT1" =>1);
my %ACMGgene = ("ACTA2" =>1,"ACTC1" =>1,"ACVRL1" =>1,"APC" =>1,"APOB" =>1,"ATP7B" =>1,"BAG3" =>1,"BMPR1A" =>1,"BRCA1" =>1,"BRCA2" =>1,"BTD" =>1,"CACNA1S" =>1,"CALM1" =>1,"CALM2" =>1,"CALM3" =>1,"CASQ2" =>1,"COL3A1" =>1,"DES" =>1,"DSC2" =>1,"DSG2" =>1,"DSP" =>1,"ENG" =>1,"FBN1" =>1,"FLNC" =>1,"GAA" =>1,"GLA" =>1,"HFE" =>1,"HNF1A" =>1,"KCNH2" =>1,"KCNQ1" =>1,"LDLR" =>1,"LMNA" =>1,"MAX" =>1,"MEN1" =>1,"MLH1" =>1,"MSH2" =>1,"MSH6" =>1,"MUTYH" =>1,"MYBPC3" =>1,"MYH11" =>1,"MYH7" =>1,"MYL2" =>1,"MYL3" =>1,"NF2" =>1,"OTC" =>1,"PALB2" =>1,"PCSK9" =>1,"PKP2" =>1,"PMS2" =>1,"PRKAG2" =>1,"PTEN" =>1,"RB1" =>1,"RBM20" =>1,"RET" =>1,"RPE65" =>1,"RYR1" =>1,"RYR2" =>1,"SCN5A" =>1,"SDHAF2" =>1,"SDHB" =>1,"SDHC" =>1,"SDHD" =>1,"SMAD3" =>1,"SMAD4" =>1,"STK11" =>1,"TGFBR1" =>1,"TGFBR2" =>1,"TMEM127" =>1,"TMEM43" =>1,"TNNC1" =>1,"TNNI3" =>1,"TNNT2" =>1,"TP53" =>1,"TPM1" =>1,"TRDN" =>1,"TSC1" =>1,"TSC2" =>1,"TTN" =>1,"TTR" =>1,"VHL" =>1,"WT1" =>1);



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if (defined $trio){

if (defined $skipCaseWT && $finalSortData[$dicoColumnNbr{"Genotype-".$case}] eq "0/0"){
next;
switch ($familyGenotype){
#Check if case/dad and case/mum inheritance are consistent
case /^_0\/0_0\/1_0\/0_/ {$dadVariant ++ ;}
case /^_0\/0_0\/0_0\/1_/ {$mumVariant ++ ;}
}
next;
}

switch ($familyGenotype){
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