Article
dv-trio: a family-based variant calling pipeline using DeepVariant.
Bioinformatics (Oxford, England) - 1 Jun 2020
Ip Eddie K K, Hadinata Clinton, Ho Joshua W K, Giannoulatou Eleni
Abstract excerpt
MOTIVATION: In 2018, Google published an innovative variant caller, DeepVariant, which converts pileups of sequence reads into images and uses a deep neural network to identify single-nucleotide variants and small insertion/deletions from next-generation sequencing data. This approach outperforms existing state-of-the-art tools. However, DeepVariant was designed to call variants within a single sample. In disease...
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