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SNP Calling Parameter Settings

Hi everyone,

I am using family trios data to run GATK's SNP calling pipeline. The HaplotypeCaller gave me the father's SNPs file, which I have recalibrated using VariantRecalibrator. But the final VCF file still has 3 million “PASS” records. Actually, one human has no chance to carry so many SNPs.

Any advice for adjusting the parameters?

The parameters I used refer to the literature below.

Roazen, D., Thibault, J., Banks, E., Garimella, K., Altshuler, D., Gabriel, S. and DePristo, M. (2013). From FastQ Data to High-Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline. Current Protocols in Bioinformatics, pp.11.10.1-11.10.33.

Thanks.

snp gatk vcf

Actually, one human has no chance to carry so many SNPs.

Why do you think so? What is the expected number of SNPs for one human subject on average?

A little more than 2 million is appropriate, as far as I know.

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