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Updated: Sep 16, 2025

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

American journal of human genetics
|July 10, 2025
PubMed
概括

人口队列数据可以确定变异性致病性的证据,帮助基因组医学. 这项研究发现,英国生物库数据的几率比率与临床指南一致,可能会重新分类具有不确定意义的变异 (VUS).

关键词:
ACMG/AMP序列变异解释指南在PS4的证据.英国生物银行这就是VUS VUS VUS.临床变异分类临床变异分类对于罕见的编码变体的疾病丰富.赔率比率 赔率比率 的比率.统计遗传学统计遗传学变体解释变体解释不确定意义的变种.

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