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Updated: Jan 8, 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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奇迹:贝叶斯统计方法用于基因水平的罕见变异分析,包含功能注释

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
概括

我们开发了MIRAGE,这是一种贝叶斯的方法,用于在全外因子测序研究中分析罕见变异. 通过考虑各种变异效应,MIRAGE改进了基因水平关联测试,超过了用于识别自闭症风险基因的现有方法.

关键词:
自闭症自闭症是什么罕见的变种 罕见的变种整体外因子序列的序列.

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