GenomicsNature BiotechnologyPeer-reviewed
Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes
the Global Alliance for Genomics and Health Benchmarking Team, Peter Krusche, Len Trigg…·Justin M. Zook
The paper develops standardized tools and best practices for benchmarking germline small variant calls in human genomes using truth sets and performance metrics.
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