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Updated: Jun 6, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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ClinVar:更新以支持对生殖线和体质变异的分类

Melissa J Landrum1, Shanmuga Chitipiralla1, Kuljeet Kaur1

  • 1National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, 8600 Rockville Pike, Bethesda, MD 20894, USA.

Nucleic acids research
|November 23, 2024
PubMed
概括

现在ClinVar分类了生殖系和体质遗传变异,提高了基因组测试的透明度. 这一更新通过为癌症变异提供明确的临床影响和瘤原性数据来改善患者的护理.

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