Entering edit mode
3.4 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.
use
gatk VariantAnnotator -A PossibleDeNovo --pedigree input.ped ....
I performed this step also, but how do I find out compound hetrozyosity from the output file.