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MetaRNN: Differentiating Rare Pathogenic and Rare Benign Missense SNVs and InDels Using Deep Learning

2021-04-11

Abstract excerpt

With advances in high-throughput DNA sequencing, numerous genetic variants have been discovered in the human genome. One challenge we face is interpreting these variants to help in disease screening, diagnosis, and treatment. While multiple computational approaches have been proposed to improve our understanding of genetic variants, their ability to identify rare pathogenic variants from rare benign ones is still...

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Literature Corpus work: 3afd039f-5052-505e-a635-a2a845b688e1
DOI: 10.1101/2021.04.09.438706

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