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HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer
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HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer
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Journal Article
HerediVar and HerediClassify: tools for streamlining genetic variant classification in hereditary breast and ovarian cancer
2025
Overview
Background
Multiple 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.
Methods
We 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
.
Results
HerediVar 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.
Conclusion
In 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.
Publisher
BioMed Central,Springer Nature B.V,BMC
Subject
/ Automated variant classification
/ Biomedical and Life Sciences
/ Datasets
/ Female
/ Genetic Predisposition to Disease
/ Genetic Variation - genetics
/ Hereditary breast and ovarian cancer
/ Hereditary Breast and Ovarian Cancer Syndrome - genetics
/ Humans
/ Ovarian Neoplasms - genetics
/ Software
