How do I call compound hetrozygosity from multiple trios cohort?
0
2
Entering edit mode
2.8 years ago
DareDevil ★ 4.3k

I have a cohort of 15 trios comined as a vcf file. It contains 15x3 (45 sample) vcf information

gatk CombineGVCFs \
    -R $reference \
    -L $interval \
    --variant 001C1.vcf.gz \
    --variant 001c2.vcf.gz \
    --variant 001P1.vcf.gz \
        .....
        .....
        -O cohort.g.vcf.gz

gatk --java-options "-Xmx16g" GenotypeGVCFs  --reference $reference --variant cohort.g.vcf.gz --output output.vcf.gz --dbsnp $DBSNP --intervals $interval

and I have the pedigree info for the family as:

#FamID   IndID   PatID   MatID   Sex     Phenotype
1       in1     Pat1    Mat1    1       2
1       Pat1    0       0       1       0
1       Mat1    0       0       2       0
2       in2     Pat2    Mat2    1       2
2       Pat2    0       0       1       0
2       Mat2    0       0       2       0

How can I now identify the compound heterozygosity from the cohort for the affected samples for each family ? Any help appreciated.

ped gatk trio heterozygosity compound vcf • 720 views
ADD COMMENT
0
Entering edit mode

use gatk VariantAnnotator -A PossibleDeNovo --pedigree input.ped ....

ADD REPLY
0
Entering edit mode

I performed this step also, but how do I find out compound hetrozyosity from the output file.

ADD REPLY

Login before adding your answer.

Traffic: 1507 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6