関連する実験動画

Updated: Jan 8, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

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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MIRAGE：機能アノテーションを組み込んだ遺伝子レベルの希少バリアント解析のためのベイジアン統計的手法

Shengtong Han1, Xiaotong Sun2, Laura Sloofman3

  • 1School of Dentistry, Marquette University, Milwaukee, WI, USA; Department of Human Genetics, University of Chicago, Chicago, IL, USA.

American journal of human genetics
|December 20, 2025
PubMed
まとめ

全エクソームシーケンシング研究における希少バリアント解析のためのベイジアン手法であるMIRAGEを開発しました。MIRAGEは、多様なバリアント効果を考慮することで遺伝子レベルの関連テストを改善し、自閉症リスク遺伝子の特定において既存の方法を上回ります。

キーワード:
自閉症希少バリアント全エクソームシーケンス

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