ACMG检验标准以及InterVar自动化实现：
https://qinqianshan.com/ngs/callvariant/acmg-intervar/
注：上面的网站将ACMG检验标准及InterVar将的内容非常全面、清晰。
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ACMG5类判型：
pathogenic
likely pathogenic
benign
likely benign
uncertain significance
引文1：
InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5294755/
文章图1
引文2：
Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4544753/
文章图2
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网页版intervar：http://wintervar.wglab.org
Intervar需28个证据：18个自动注释，10个需人工补充。
Intervar自带注释库（库内容来自annovar的注释输出）：
Intervar的前置软件annovar需要的库：
