GenomicsNature BiotechnologyPeer-reviewed
Creating a universal SNP and small indel variant caller with deep neural networks
Ryan E. Poplin, Pi-Chuan Chang, David H. Alexander…·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.
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