A diagnosis for all rare genetic diseases: the horizon and the next frontiers
A diagnosis for all rare genetic diseases: the horizon and the next frontiers
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.
32-37
Boycott, Kym M.
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Hartley, Taila
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Biesecker, Leslie G.
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Gibbs, Richard A.
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Innes, A. Micheil
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Riess, Olaf
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Belmont, John
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Dunwoodie, Sally L.
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Jojic, Nebojsa
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Lassmann, Timo
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Mackay, Deborah
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Temple, I. Karen
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Visel, Axel
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Baynam, Gareth
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21 March 2019
Boycott, Kym M.
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Hartley, Taila
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Biesecker, Leslie G.
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Gibbs, Richard A.
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Innes, A. Micheil
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Riess, Olaf
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Belmont, John
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Dunwoodie, Sally L.
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Jojic, Nebojsa
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Lassmann, Timo
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Mackay, Deborah
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Temple, I. Karen
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Visel, Axel
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Baynam, Gareth
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Boycott, Kym M., Hartley, Taila, Biesecker, Leslie G., Gibbs, Richard A., Innes, A. Micheil, Riess, Olaf, Belmont, John, Dunwoodie, Sally L., Jojic, Nebojsa, Lassmann, Timo, Mackay, Deborah, Temple, I. Karen, Visel, Axel and Baynam, Gareth
(2019)
A diagnosis for all rare genetic diseases: the horizon and the next frontiers.
Cell, 177 (1), .
(doi:10.1016/j.cell.2019.02.040).
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.
Text
vF Boycott Diagnosis for all RDs Cell
- Accepted Manuscript
More information
Accepted/In Press date: 30 January 2019
e-pub ahead of print date: 21 March 2019
Published date: 21 March 2019
Identifiers
Local EPrints ID: 429141
URI: http://eprints.soton.ac.uk/id/eprint/429141
ISSN: 0092-8674
PURE UUID: bb000b32-293b-42db-8456-63f8144117e3
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Date deposited: 22 Mar 2019 17:30
Last modified: 06 Jun 2024 04:21
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Contributors
Author:
Kym M. Boycott
Author:
Taila Hartley
Author:
Leslie G. Biesecker
Author:
Richard A. Gibbs
Author:
A. Micheil Innes
Author:
Olaf Riess
Author:
John Belmont
Author:
Sally L. Dunwoodie
Author:
Nebojsa Jojic
Author:
Timo Lassmann
Author:
Axel Visel
Author:
Gareth Baynam
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