Standardizing variant naming in literature with VariantValidator to increase diagnostic rates
Peter Freeman, J. Wagstaff, Ivo F.A.C. Fokkema, Garry R. Cutting, Heidi L. Rehm, Angela Davies, Johan T. den Dunnen, Liam J Gretton, Raymond Dalgleish
Topics & Concepts
BiologyGeneticsComputational biologyEvolutionary biologyBiomedical Text Mining and OntologiesGenomics and Rare DiseasesNatural Language Processing Techniques