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Updated: Jun 5, 2025

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研究设计和有害的罕见变体在生物库规模数据集中的采样

Margaret C Steiner1, Daniel P Rice2,3, Arjun Biddanda4

  • 1Department of Human Genetics, University of Chicago, Chicago, IL 60637.

bioRxiv : the preprint server for biology
|December 16, 2024
PubMed
概括

地理广泛的采样增加了罕见的发现,有害的变体,但降低了他们的检测频率. 这种"发现"和"稀释"效应对于设计大规模遗传研究至关重要.

关键词:
生物科学 生物科学遗传学 遗传学 是一个负选择选择是负选择.人口遗传学 人口遗传学人口结构 人口结构.罕见的变种 罕见的变种

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