Article

Large-scale clinical interpretation of genetic variants using evolutionary data and deep learning

2020-12-22

Abstract excerpt

Quantifying the pathogenicity of protein variants in human disease-related genes would have a profound impact on clinical decisions, yet the overwhelming majority (over 98%) of these variants still have unknown consequences 1–3 . In principle, computational methods could support the large-scale interpretation of genetic variants. However, prior methods 4–7 have relied on training machine learning models on avail...

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Literature Corpus work: 0810c8ad-c376-502d-a5d6-0555a48a332b
DOI: 10.1101/2020.12.21.423785

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