Publication
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, February 2025, Springer Science + Business Media
DOI: 10.1038/s41586-025-08623-w