BioinformaticsbioRxivPreprint
Genomic variant calling: Flexible tools and a diagnostic data set
Michael Lawrence, Melanie A. Huntley, Eric Stawiski…·Robert Gentleman
The paper develops software tools and a diagnostic dataset to evaluate variant calling pipelines, finding an FDR of 0.028 and FNR of 0.019 in a mixed cell line dataset.
DOI 10.1101/027227