| Title: |
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data |
| Authors: |
Cipriani, V; Vestito, L; Magavern, EF; Jacobsen, JO; Arno, G; Behr, ER; Benson, KA; Bertoli, M; Bockenhauer, D; Bowl, MR; Burley, K; Chan, LF; Chinnery, P; Conlon, P; Costa, M; Davidson, AE; Dawson, SJ; Elhassan, E; Flanagan, SE; Futema, M; Gale, DP; García-Ruiz, S; Corcia, CG; Griffin, HR; Hambleton, S; Hicks, AR; Houlden, H; Houlston, RS; Howles, SA; Kleta, R; Lekkerkerker, I; Lin, S; Liskova, P; Mitchison, H; Morsy, H; Mumford, AD; Newman, WG; Neatu, R; O'Toole, EA; Ong, AC; Pagnamenta, AT; Rahman, S; Rajan, N; Robinson, PN; Ryten, M; Sadeghi-Alavijeh, O; Sayer, JA; Shovlin, CL; Taylor, JC; Teltsh, O; Tomlinson, I; Tucci, A; Turnbull, C; Van Eerde, AM; Ware, JS; Watts, LM; Webster, AR; Westbury, SK; Zheng, SL; Caulfield, M; Smedley, D |
| Publication Year: |
2023 |
| Collection: |
Imperial College London: Spiral |
| Document Type: |
report |
| Language: |
English |
| Relation: |
medRxiv; http://hdl.handle.net/10044/1/110388 |
| DOI: |
10.1101/2023.12.20.23300294 |
| Availability: |
http://hdl.handle.net/10044/1/110388; https://doi.org/10.1101/2023.12.20.23300294 |
| Rights: |
The copyright holder for this preprint is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. All rights reserved. No reuse allowed without permission. |
| Accession Number: |
edsbas.7FDCDD18 |
| Database: |
BASE |