ACMG檢驗標準以及InterVar自動化實現(xiàn)：

https://qinqianshan.com/ngs/callvariant/acmg-intervar/

注：上面的網(wǎng)站將ACMG檢驗標準及InterVar將的內容非常全面、清晰。

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ACMG5類判型：

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/

文章圖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/

文章圖2

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網(wǎng)頁版intervar：http://wintervar.wglab.org

Intervar需28個證據(jù)：18個自動注釋，10個需人工補充。

Intervar自帶注釋庫（庫內容來自annovar的注釋輸出）：

Intervar的前置軟件annovar需要的庫：