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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
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.

0092-8674
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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Boycott, Kym M.
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Hartley, Taila
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Biesecker, Leslie G.
98ffa613-5938-41c7-9900-c3cf989c4fd7
Gibbs, Richard A.
afe240ba-c880-423e-a743-2da168fa756b
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), 32-37. (doi:10.1016/j.cell.2019.02.040).

Record type: Letter

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
Restricted to Repository staff only until 21 March 2020.
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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: https://eprints.soton.ac.uk/id/eprint/429141
ISSN: 0092-8674
PURE UUID: bb000b32-293b-42db-8456-63f8144117e3
ORCID for Deborah Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for I. Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 22 Mar 2019 17:30
Last modified: 20 Jul 2019 01:11

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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: Deborah Mackay ORCID iD
Author: I. Karen Temple ORCID iD
Author: Axel Visel
Author: Gareth Baynam

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