Article
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Bioinformatics (Oxford, England) - 1 Mar 2023
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
Abstract excerpt
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. Thus, it is the main burden of the incorporation of next-generation sequencing into the clinical setting. RESULTS:...
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