How to check the quality of VCF file for GWAS analysis
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2.2 years ago
Qingyang Xiao ▴ 160

I recently started a GWAS project. My previous colleagues have preprocessed the genotyping file and made the vcf file (each person, each variant).

What aspects can I check that if the files are qualitywise ready for GWAS analyses?

Thanks.

VCF GWAS control Quality • 1.1k views
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See the following post on filtering VCF files:

Criteria for Variant Call

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2.2 years ago
raphael.B ▴ 520

Assuming you're processing WGS data:

Gatk provides a few answers with the VQSR score or their hard filters. But truth is you won't find a filter that works perfectly. My advice would be follow these standards that are quite permissive, and check a posteriori your hits on IGV (or equivalent) to make sure your variants are true positive.

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