InterVar软件和ACMG指南

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：