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Updated: May 21, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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多样化的祖先代表性改善了遗传不耐受度量

Alexander L Han1,2, Chloe F Sands1,2, Dorota Matelska3

  • 1Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX, USA.

Nature communications
|March 19, 2025
PubMed
概括

基因组不容忍度指标在增加祖先多样性时表现更好,而不仅仅是更大的样本大小. 在非洲和美国混血儿数据上训练的成绩提高了疾病基因检测,推进了精准医学.

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