ArticleHuman genomics2025
HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer.
Article in Human genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundMultiple different evidence types as well as gene-specific variant classification guidelines need to be considered during the classification of variants, making the process complex. Therefore, tools that support variant classification by experts are urgently needed.
methodsWe present HerediVar a web application and HerediClassify a variant classification algorithm. The performance of HerediClassify was validated and compared to other variant classification tools. HerediClassify implements 19/28 variant classification criteria by the American College of Medical Genetics and gene-specific recommendations for ATM, BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53.
resultsHerediVar offers modular annotation services and allows for collaboration in the classification of variants. On the validation dataset, HerediClassify shows an average F1-Score of 93% across all criteria. HerediClassify outperforms other automated variant classification tools like vaRHC and Cancer SIGVAR.
conclusionIn HerediVar and HerediClassify we present a powerful solution to support variant classification in HBOC. Through their modular design, HerediVar and HerediClassify are easily extendable to other use cases and human genetic diagnostics as a whole.
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