@article{2abf73f3fe474a51ae1e36a25c6d337e,
title = "Standardising variant naming in literature with VariantValidator to increase diagnostic rates",
abstract = "Accurate naming of genetic variants is essential to identify clinical data that interpret the consequences of such variants. In partnership with the Human Genome Organization, we advocate for integration of VariantValidator in publishing of journals and databases, to improve the quality of shared genetic data and ultimately patient outcomes.",
author = "Freeman, {Peter J.} and Wagstaff, {John F.} and Fokkema, {Ivo F. A. C.} and Cutting, {Garry R.} and Rehm, {Heidi L.} and Davies, {Angela C.} and {den Dunnen}, {Johan T.} and Gretton, {Liam J.} and Raymond Dalgleish",
year = "2024",
month = oct,
day = "2",
doi = "10.1038/s41588-024-01938-w",
language = "English",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Research",
}