Predicting expression-altering promoter mutations with deep learning.

已完结 10 由 TBsky 发布于 2025/6/23 21:35:20

DOI:10.1126/science.ads7373
作者：Kishore Jaganathan,?Nicole Ersaro,?Gherman Novakovsky,?Yuchuan Wang,?Terena James,?Jeremy Schwartzentruber,?Petko Fiziev,?Irfahan Kassam,?Fan Cao,?Johann Hawe,?Henry Cavanagh,?Ashley Lim,?Grace Png,?J
文献类型：期刊论文
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American Association for the Advancement of Science (AAAS)

Abstract：Only a minority of patients with rare genetic diseases are presently diagnosed by exome sequencing, suggesting that additional unrecognized pathogenic variants may reside in noncoding sequen

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