Rare Disease Gene Association Discovery in the 100,000 Genomes Project
Valentina Cipriani, Letizia Vestito, Emma F Magavern,Julius O B Jacobsen,Gavin Arno,Elijah R Behr, Katherine A Benson,Marta Bertoli,Detlef Bockenhauer,Michael R Bowl, Kate Burley,Li F Chan, Patrick Chinnery,Peter J Conlon, Marcos A Costa,Alice E Davidson,Sally J Dawson, Elhussein A E Elhassan,Sarah E Flanagan,Marta Futema,Daniel P Gale, Sonia García-Ruiz, Cecilia Gonzalez Corcia, Helen R Griffin,Sophie Hambleton, Amy R Hicks,Henry Houlden,Richard S Houlston,Sarah A Howles,Robert Kleta, Iris Lekkerkerker,Siying Lin,Petra Liskova, Hannah H Mitchison,Heba Morsy,Andrew D Mumford,William G Newman, Ruxandra Neatu, Edel A O'Toole,Albert C M Ong,Alistair T Pagnamenta,Shamima Rahman,Neil Rajan,Peter N Robinson,Mina Ryten, Omid Sadeghi-Alavijeh,John A Sayer, Claire L Shovlin,Jenny C Taylor, Omri Teltsh,Ian Tomlinson,Arianna Tucci,Clare Turnbull,Albertien M van Eerde,James S Ware, Laura M Watts,Andrew R Webster,Sarah K Westbury,Sean L Zheng, Mark Caulfield,Damian Smedley Nature（2025）
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