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Updated: Jul 28, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Published on: August 20, 2019

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罕见的透突变会导致常见疾病的严重风险

Petko P Fiziev1, Jeremy McRae1, Jacob C Ulirsch1

  • 1Artificial Intelligence Laboratory, Illumina, Inc., San Diego, CA 92122, USA.

Science (New York, N.Y.)
|June 1, 2023
PubMed
概括

罕见,高影响的基因突变强烈影响复杂的特征和疾病. 这些罕见变异比常见变异更好地表明严重的早期疾病的极端风险,改善了跨人群的遗传风险预测.

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