Standardizing variant naming in literature with VariantValidator to increase diagnostic rates.

Autor: Freeman PJ; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK. peter.j.freeman@manchester.ac.uk.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK. peter.j.freeman@manchester.ac.uk., Wagstaff JF; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK., Fokkema IFAC; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Cutting GR; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Rehm HL; Center for Genomic Medicine, Massachusetts General Hospital, Cambridge Street, Boston, MA, USA., Davies AC; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK., den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands., Gretton LJ; Digital Services, University of Leicester, Leicester, UK., Dalgleish R; Division of Informatics, Imaging and Data Science, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, UK.; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, UK.
Jazyk: angličtina
Zdroj: Nature genetics [Nat Genet] 2024 Nov; Vol. 56 (11), pp. 2284-2286.
DOI: 10.1038/s41588-024-01938-w
Databáze: MEDLINE