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Updated: Sep 8, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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HerediVar和HerediClassify:在遗传性乳腺和卵巢癌中简化遗传变异分类的工具

Anna-Lena Katzke1, Marvin Doebel2, Jan Hauke3

  • 1Department of Human Genetics, Hannover Medical School, Hannover, Germany. katzke.anna-lena@mh-hannover.de.

Human genomics
|July 4, 2025
PubMed
概括

HerediVar和HerediClassify为专家变种分类提供了强大的解决方案,简化了复杂的过程. 这种工具具有很高的准确性,并且优于现有的遗传诊断方法.

关键词:
在ACMG中,ACMG就是ACMG.自动变体分类自动化变体分类基因诊断 基因诊断 基因诊断 基因诊断遗传性乳腺和卵巢癌 遗传性乳腺和卵巢癌变体注释 变体注释变体分类的变体分类

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