Creating a universal SNP and small indel variant caller with deep neural networks
Ryan E. Poplin, Pi-Chuan Chang, David H. Alexander, Scott Schwartz, Thomas Colthurst, Alexander Ku, Dan Newburger, Jojo Dijamco, Nam Nguyen, Pegah Tootoonchi Afshar, Sam S Gross, Lizzie Dorfman, Cory Y. McLean, Mark A. DePristo
A convolutional network on read-pileup images outperforms hand-built statistical variant callers, won an FDA challenge award for SNPs, learns new sequencing technologies and generalizes to other mammals.
Nature Biotechnology · Sep 24, 2018Peer-reviewedGenomics