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首页|Identification of misclassified ClinVar variants using disease population prevalence

Identification of misclassified ClinVar variants using disease population prevalence

Perkins Brad Dec Eric Claire Hou Ying-Chen Telenti Amalio Shah Naisha Sainger Rachana Venter J. Craig Caskey C. Thomas Yu Hung-Chun

10.1101/075416
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10.1101/075416
bioRxiv_logobioRxiv

Identification of misclassified ClinVar variants using disease population prevalence

Perkins Brad 1Dec Eric 1Claire Hou Ying-Chen 1Telenti Amalio 2Shah Naisha 1Sainger Rachana 1Venter J. Craig 2Caskey C. Thomas 3Yu Hung-Chun1

作者信息

  • 1. Human Longevity Inc.,
  • 2. Human Longevity Inc.,||J. Craig Venter Institute,
  • 3. Baylor College of Medicine in Houston,
  • 折叠

Key words

ACMG/prevalence/penetrance/ClinVar/Orphanet/pathogenic variant

引用本文复制引用

Perkins Brad,Dec Eric,Claire Hou Ying-Chen,Telenti Amalio,Shah Naisha,Sainger Rachana,Venter J. Craig,Caskey C. Thomas,Yu Hung-Chun.Identification of misclassified ClinVar variants using disease population prevalence[EB/OL].(2025-03-28)[2025-12-13].https://www.biorxiv.org/content/10.1101/075416.

学科分类

医学研究方法/基础医学/遗传学

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首发时间： 2025-03-28
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