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Updated: Jun 22, 2025

Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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在人口规模的全基因组测序数据中,识别罕见变异与认同不一致

Kelsey E Johnson1, Christopher J Adams2, Benjamin F Voight3,4,5

  • 1Cell and Molecular Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Methods in ecology and evolution
|June 28, 2024
PubMed
概括

这项研究引入了一种新方法来识别不从单一祖先继承的罕见遗传变异,这对于理解人类进化和人口历史至关重要. 这种方法有助于区分真正的身份由血统 (IBD) 变异与那些由突变或错误引起的变异.

关键词:
贝叶斯的方法 贝叶斯的方法生物信息学是一种生物信息学.进化生物学是进化的生物学.分子进化分子演变.人口遗传学 人口遗传学

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