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Updated: May 24, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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ヒトのタンパク質をコードする遺伝子の機能喪失変異の体系的な調査

Daniel G MacArthur1, Suganthi Balasubramanian, Adam Frankish

  • 1Wellcome Trust Sanger Institute, Hinxton, UK. macarthur@atgu.mgh.harvard.edu

Science (New York, N.Y.)
|February 21, 2012
PubMed
まとめ

人間のゲノムは通常約100の機能喪失 (LoF) 変異体を含み,約20の遺伝子を不活性化する. この研究では,LoF変異の有病率を洗練し,臨床応用のための疾患関連アレルを特定しています.

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