vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines

MOTIVATION: Germline variant classification allows accurate genetic diagnosis and risk assessment. However, it is a tedious iterative process integrating information from several sources and types of evidence. It should follow gene-specific (if available) or general updated international guidelines....

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Detalles Bibliográficos
Autores principales: Munté, Elisabet, Feliubadaló, Lidia, Pineda, Marta, Tornero, Eva, Gonzalez, Maribel, Moreno-Cabrera, José Marcos, Roca, Carla, Bales Rubio, Joan, Arnaldo, Laura, Capellá, Gabriel, Mosquera, Jose Luis, Lázaro, Conxi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032633/
https://www.ncbi.nlm.nih.gov/pubmed/36916756
http://dx.doi.org/10.1093/bioinformatics/btad128

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032633/
https://www.ncbi.nlm.nih.gov/pubmed/36916756
http://dx.doi.org/10.1093/bioinformatics/btad128

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