Tools to check consistency between VCF genotypes and pedigree-stated sex and family relationships
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6.0 years ago
gaelgarcia ▴ 260

We're currently trying to do identity checks on targeted genome sequencing data from ~15K samples. Our target panel is very specific, and only a very small fraction of the sites interrogated by Peddy are covered.

Is there a similar tool you can recommend to verify that the stated stated sex and family relationships match the relationships (relatedness, kinship, etc.) and sex inferred from a VCF?

Related:

Checking kinship coefficients and relationships and comparing genotyping data to exomes

Checking kinship coefficients and relationships and comparing genotyping data to exomes

Question: Obtaining list of / manually specifying interrogation sites in Peddy

Obtaining list of / manually specifying interrogation sites in Peddy

SNP gatk VCF KING PLINK • 2.3k views
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Tagging brentp

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6.0 years ago

Check for Mendel errors, and be suspicious of any sample with a large number of them. “plink —mendel” is one way to do this.

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