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Updated: Jul 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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随着时间的推移,ClinVar和HGMD基因组变异分类的准确性得到了改进,这是通过隐含的疾病负担来衡量的

Andrew G Sharo1,2,3, Yangyun Zou4,5,6, Aashish N Adhikari4,5,7

  • 1Biophysics Graduate Group, University of California, Berkeley, CA, 94720, USA. sharo@compbio.berkeley.edu.

Genome medicine
|July 13, 2023
PubMed
概括

遗传数据库中的变异错误分类正在减少,但偏见仍然存在,特别是对于非洲祖先. 改进的指导方针和多样化的数据是准确基因变异解释的关键.

关键词:
克林瓦尔 (ClinVar) 是一个在HGMD中,它是HGMD.代谢中的先天性错误致病性变体是一种致病性变体.变体分类的变体分类变体策划 变体策划

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