Document Type
Article
Publication Date
2-26-2025
Publication Title
Nature
Keywords
JGM
JAX Source
Nature. 2025
ISSN
1476-4687
PMID
40011789
DOI
https://doi.org/10.1038/s41586-025-08623-w
Abstract
Up to 80% of rare disease patients remain undiagnosed after genomic sequencing
Recommended Citation
Cipriani V,
Vestito L,
Magavern E,
Jacobsen J,
Arno G,
Behr E,
Benson K,
Bertoli M,
Bockenhauer D,
Bowl M,
Burley K,
Chan L,
Chinnery P,
Conlon P,
Costa M,
Davidson A,
Dawson S,
Elhassan E,
Flanagan S,
Futema M,
Gale D,
García-Ruiz S,
Corcia C,
Griffin H,
Hambleton S,
Hicks A,
Houlden H,
Houlston R,
Howles S,
Kleta R,
Lekkerkerker I,
Lin S,
Liskova P,
Mitchison H,
Morsy H,
Mumford A,
Newman W,
Neatu R,
O'Toole E,
Ong A,
Pagnamenta A,
Rahman S,
Rajan N,
Robinson P,
Ryten M,
Sadeghi-Alavijeh O,
Sayer J,
Shovlin C,
Taylor J,
Teltsh O,
Tomlinson I,
Tucci A,
Turnbull C,
van Eerde A,
Ware J,
Watts L,
Webster A,
Westbury S,
Zheng S,
Caulfield M,
Smedley D.
Rare disease gene association discovery in the 100,000 Genomes Project. Nature. 2025