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Updated: Sep 19, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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从人口生物库数据中提取和校准变异性致病性证据

Vineel Bhat1, Tian Yu1, Lara Brown1

  • 1Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.

medRxiv : the preprint server for health sciences
|June 4, 2025
PubMed
概括

人口队列数据可以识别遗传变异的致病性,帮助基因组医学. 这项研究发现了重新分类未知意义的罕见变异 (VUS) 的证据,可能揭示未知的疾病风险.

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