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

Title	A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers.
Publication Type	Journal Article
Year of Publication	2019
Authors	Boycott, 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
Journal	Cell
Volume	177
Issue	1
Pagination	32-37
Date Published	2019 Mar 21
ISSN	1097-4172
Keywords	Exome, Exome Sequencing, Genetic Testing, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Rare Diseases, Sequence Analysis, DNA, Translational Research, Biomedical
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.
DOI	10.1016/j.cell.2019.02.040
Alternate Journal	Cell
PubMed ID	30901545
Grant List	FDN-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