Boycott, Kym M and Hartley, Taila and Biesecker, Leslie G and Gibbs, Richard A and Innes, A. Micheil and Riess, Olaf and Belmont, John and Dunwoodie, Sally L and Jojic, Nebojsa and Lassmann, Timo and Mackay, Deborah and Temple, I. Karen and Visel, Axel and Baynam, Gareth (2019) A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell, 177 (1). pp.32-37. ISSN 00928674 (Not OA)
Full text not available from this repository.Abstract
The introduction of exome sequencing in the clinic has sparked tremendous optimism for the future of rare disease diagnosis, and there is exciting opportunity to further leverage these advances. To provide diagnostic clarity to all of these patients, however, there is a critical need for the field to develop and implement strategies to understand the mechanisms underlying all rare diseases and translate these to clinical care.
| Item Type: | Article |
|---|---|
| Subjects: | R Medicine > R Medicine (General) |
| Depositing User: | Repository Administrator |
| Date Deposited: | 24 Mar 2019 22:26 |
| Last Modified: | 24 Mar 2019 22:26 |
| URI: | https://eprints.victorchang.edu.au/id/eprint/816 |
Actions (login required)
 |
View Item |