A universal SNP and small-indel variant caller using deep neural networks
Abstract
Despite rapid advances in sequencing technologies, accurately calling genetic variants present in an individual genome from billions of short, errorful sequence reads remains challenging. Here we show that a deep convolutional neural network can call genetic variation in aligned next-generation sequencing read data by learning statistical relationships between images of read pileups around putative variant and true genotype calls. The approach,...
Paper Details
Title
A universal SNP and small-indel variant caller using deep neural networks
Published Date
Sep 24, 2018
Journal
Volume
36
Issue
10
Pages
983 - 987
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