Entering edit mode
4.0 years ago
DareDevil
★
4.3k
I want to call denovo variants from trios cohort consisiting of 15 trios (15*3 = 45 samples) I followed below mentioned steps:
gatk GenomicsDBImport \
-V data/gvcfs/mother.g.vcf \
-V data/gvcfs/father.g.vcf \
-V data/gvcfs/son.g.vcf \
--genomicsdb-workspace-path trio_db \
--intervals intervals.txt
## Select Variants
gatk SelectVariants \
-R /data/ref/grch38.fasta \
-V gendb://trio_db \
-O trio_selectvariants.g.vcf
## Run joint genotyping on the trio
gatk GenotypeGVCFs \
-R /data/ref/grch38.fasta \
-V trio_db \
-O trioGGVCF.vcf \
-L intervals.txt
Do I need to run this on all the trios individually?
Or
Are there any way to do it?
Hi Pierre Lindenbaum, Can you guide me to create the pedigree file?. My understanding is a ped file contains following
Family ID
Individual ID
Paternal ID
Maternal ID
Sex (1=male; 2=female; other=unknown)
Phenotype
Should I make this manually? Or are there other ways to do it?
I created a sample pedigree file as follows:
is this the right way to do it? where
Pat
isfatherID
;Mat
isMotherID
;in
ischildID
This format seems correct. You can also go through this link