Cipriani, Valentina; Vestito, Letizia; Magavern, Emma F; Jacobsen, Julius Ob; Arno, Gavin; Behr, Elijah R; Benson, Katherine A; Bertoli, Marta; Bockenhauer, Detlef; Bowl, Michael R; Burley, Kate; Chan, Li F; Chinnery, Patrick; Conlon, Peter; Costa, Marcos; Davidson, Alice E; Dawson, Sally J; Elhassan, Elhussein; Flanagan, Sarah E; Futema, Marta; Gale, Daniel P; García-Ruiz, Sonia; Corcia, Cecilia Gonzalez; Griffin, Helen R; Hambleton, Sophie; Hicks, Amy R; Houlden, Henry; Houlston, Richard S; Howles, Sarah A; Kleta, Robert; Lekkerkerker, Iris; Lin, Siying; Liskova, Petra; Mitchison, Hannah; Morsy, Heba; Mumford, Andrew D; Newman, William G; Neatu, Ruxandra; O'Toole, Edel A; Ong, Albert Cm; Pagnamenta, Alistair T; Rahman, Shamima; Rajan, Neil; Robinson, Peter N; Ryten, Mina; Sadeghi-Alavijeh, Omid; Sayer, John A; Shovlin, Claire L; Taylor, Jenny C; Teltsh, Omri; Tomlinson, Ian; Tucci, Arianna; Turnbull, Clare; van Eerde, Albertien M; Ware, James S; Watts, Laura M; Webster, Andrew R; Westbury, Sarah K; Zheng, Sean L; Caulfield, Mark; Smedley, Damian
(medRxivCold Spring Harbor Laboratory Press, 2023-12-21)
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and their family ...