vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Elisabet MuntéLidia FeliubadalóMarta PinedaEva TorneroMaribel GonzalezJosé Marcos Moreno-CabreraCarla RocaJoan Bales RubioLaura ArnaldoGabriel CapelláJose Luis MosqueraConxi LázaroPublished in: Bioinformatics (Oxford, England) (2023)
The source code can be consulted in the GitHub repository (https://github.com/emunte/vaRHC) Additionally, it will be submitted to CRAN soon.