A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.

TitleA Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Publication TypeJournal Article
Year of Publication2019
AuthorsBoycott, KM, Hartley, T, Biesecker, LG, Gibbs, RA, A Innes, M, Riess, O, Belmont, J, Dunwoodie, SL, Jojic, N, Lassmann, T, Mackay, D, I Temple, K, Visel, A, Baynam, G
JournalCell
Volume177
Issue1
Pagination32-37
Date Published2019 Mar 21
ISSN1097-4172
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.

DOI10.1016/j.cell.2019.02.040
Alternate JournalCell
PubMed ID30901545