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Updated: Sep 9, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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遺伝性がん遺伝子の変異分類は,混在した集団のゲノム不足によって影響を受けます

Bianca Caroline Figueiredo Bianco1, Aline Cristiane Planello2,3

  • 1Department of Bioscience, Faculdade de Odontologia de Piracicaba, Universidade de Campinas (FOP/UNICAMP), Piracicaba, SP, Brazil.

Molecular genetics and genomics : MGG
|September 3, 2025
PubMed
まとめ

集団特有のアレル頻度は,変種分類に大きく影響する. ブラジルのコホートのような多様なデータセットを統合することで,不確実な重要性の変種 (VUS) を再分類し,遺伝子検査における臨床的不確実性を減少させます.

キーワード:
混在する集団遺伝子変異の分類ゲノム多様性遺伝性がん症候群集団のアレル頻度不確実な重要性 (VUS) の変種

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