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  • geck: trio-based comparative benchmarking of variant calls

geck: trio-based comparative benchmarking of variant calls

https://github.com/sbg/geck

Determine the accuracy of our model by comparing the precision and recall of GATK Unified Genotyper and Haplotype Caller on the high-confidence SNPs of the NIST Ashkenazim trio and the two independent Platinum Genome trios. We show that our method is able to estimate differential precision and recall between the two pipelines with 10−3uncertainty.