Article

3Cnet: Pathogenicity prediction of human variants using knowledge transfer with deep recurrent neural networks

2020-09-28

Abstract excerpt

Thanks to the improvement of Next Generation Sequencing (NGS), genome-based diagnosis for rare disease patients become possible. However, accurate interpretation of human variants requires massive amount of knowledge gathered from previous researches and clinical cases. Also, manual analysis for each variant in the genome of patients takes enormous time and effort of clinical experts and medical doctors. Therefore...

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Literature Corpus work: 26a8fda9-3a39-5971-aeda-f8b51e0051b1
DOI: 10.1101/2020.09.27.302927

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