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Search Publications by: Justin Wagner (Fed)

Displaying 26 - 27 of 27

An open resource for accurately benchmarking small variant and reference calls

April 1, 2019

Author(s)

Justin M. Zook, Jennifer H. McDaniel, Marc L. Salit, Nathanael D. Olson, Justin M. Wagner

Benchmark small variant calls are required for developing, optimizing and assessing the performance of sequencing and bioinformatics methods. Here, as part of the Genome in a Bottle (GIAB) Consortium, we apply a reproducible, cloud-based pipeline to