HerediClassify documentation#
Welcome to the HerediClassify documentation!
HerediClassify is a tool for automated variant classification in hereditary breast and ovarian cancer.
HerediClassify follows the ACMG/AMP guidelines and implements 19/28 criteria. Additional gene specific recommendations for ATM (v.1.3.0), BRCA1 (v.1.1.0), BRCA2 (v.1.1.0), CDH1 (v.3.1.0), “PALB2” (v.1.1.0), “PTEN” (v.3.1.0), and “TP53” (v.1.4.0). Uniquely, HerediClassify introduced a clear separation between evidence on protein and splicing level. For this purpose, many rules have more than one implementation to separate between the evidence types.
For some example data of variants classified by HerediClassify please see the download section of the HerediVar website.
Contents: