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Updated: Mar 16, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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60,706人のヒトにおけるタンパク質をコードする遺伝的変異の分析

Monkol Lek1,2,3,4, Konrad J Karczewski1,2, Eric V Minikel1,2,5

  • 1Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

Nature
|August 19, 2016
PubMed
まとめ

60,706人の多様な個体からのヒトの遺伝子変異の大きなデータセットは,DNA変化の解釈のためのカタログを提供します. このリソースは,病気を引き起こす変種を特定し,ヒトの遺伝子ノックアウトを発見するのに役立ちます.

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