There are two types of GATK tools that are able to use pedigree (family structure) information:
The two variant callers (HaplotypeCaller and the deprecated UnifiedGenotyper) as well as VariantAnnotator and GenotypeGVCFs are all able to use pedigree information if you request an annotation that involves population structure (e.g. Inbreeding Coefficient). To be clear though, the pedigree information is not used during the variant calling process; it is only used during the annotation step at the end.
If you already have VCF files that were called without pedigree information, and you want to add pedigree-related annotations (e.g to use Variant Quality Score Recalibration (VQSR) with the InbreedingCoefficient as a feature annotation), don't panic. Just run the latest version of the VariantAnnotator to re-annotate your variants, requesting any missing annotations, and make sure you pass your PED file to the VariantAnnotator as well. If you forget to provide the pedigree file, the tool will run successfully but pedigree-related annotations may not be generated (this behavior is different in some older versions).
The PED files used as input for these tools are based on PLINK pedigree files. The general description can be found here.
For these tools, the PED files must contain only the first 6 columns from the PLINK format PED file, and no alleles, like a FAM file in PLINK.
Hi GATK team, I'd like to use the VariantstoBinaryPed tool on my re-sequencing dataset of ~600 individuals in order to check concordance with some GWAS data, etc. Will this be possible using the new best practices with HC, or should I stick with a multi-sample VCF from UG? Thanks!
I was wondering if you could use the toolkit to generate a separate VCF file containing only SNPs that are found at a predetermined chromosome and base pair position. I have a plink file which I want to convert back to VCF format and it seems unbelievably hard to do so I thought this may be a good way to get around that problem?
I am aware that vcftools offers this function with the "--positions
Thanks in advance, Danica
Before there is webpage for how to convert plink ped format to vcf format. But it seems that this link disappeared.
Thank you very much in advance.