Article

A Deep-learning based RNA-seq Germline Variant Caller

2022-10-20

Abstract excerpt

RNA sequencing (RNA-seq) can be applied to diverse tasks including quantifying gene expression, discovering quantitative trait loci, and identifying gene fusion events. Although RNA-seq can detect germline variants, the complexities of variable transcript abundance, target capture, and amplification introduce challenging sources of error. Here, we extend DeepVariant, a deep-learning based variant caller, to learn...

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Literature Corpus work: 27071b5a-38b7-5526-9b3d-78d56164469c
DOI: 10.1101/2022.10.16.512451

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