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 03 21
ISSN1097-4172
KeywordsExome, Genetic Testing, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Rare Diseases, Sequence Analysis, DNA, Translational Medical Research, Whole Exome Sequencing
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
Grant ListFDN-154279 / / CIHR / Canada
U01 DE024427 / DE / NIDCR NIH HHS / United States
UM1 HG009421 / HG / NHGRI NIH HHS / United States
R24 HL123879 / HL / NHLBI NIH HHS / United States
UM1 HL098166 / HL / NHLBI NIH HHS / United States