Genomic variant calling: Flexible tools and a diagnostic data set
Michael Lawrence, Melanie A. Huntley, Eric Stawiski, Art Owen, Thomas D Wu, Leonard D Goldstein, Yi Cao, Jeremiah Degenhardt, Jason Young, Joseph Guillory, Sherry Heldens, Marlena Jackson, Somasekar Seshagiri, 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.
bioRxiv · Sep 18, 2015 · PreprintBioinformatics