| Literature DB >> 30901545 |
Kym M Boycott1, Taila Hartley2, Leslie G Biesecker3, Richard A Gibbs4, A Micheil Innes5, Olaf Riess6, John Belmont7, Sally L Dunwoodie8, Nebojsa Jojic9, Timo Lassmann10, Deborah Mackay11, I Karen Temple11, Axel Visel12, Gareth Baynam13.
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.Entities:
Mesh：
Year: 2019 PMID： 30901545 DOI： 10.1016/j.cell.2019.02.040
Source DB: PubMed Journal: Cell ISSN： 0092-8674 Impact factor: 41.582