Phenotypic prediction of missense variants via deep contrastive learning.

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DOI:10.1038/s41551-026-01636-4
作者：Jun Wen,Sihang Zeng,Clara-Lea Bonzel,Shilpa Nadimpalli Kobren,Jiangchuan Du,Yi Chai,Hao Wang,Meng Zhu,Siwei Chen,Fangwei Leng,Harrison G Zhang,Katherine P Liao,Kelly Cho,Isaac S Kohane,Marinka Zitnik,
文献类型：期刊论文
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Nature

Abstract：Missense variants (MVs) influence clinical phenotypes, but our understanding of their phenotypic consequences remains constrained. Existing computational approaches to interpret MVs predomin

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