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

Kym M. Boycott; Taila Hartley; Leslie G. Biesecker; Richard A. Gibbs; A. Micheil Innes; Olaf Riess; John Belmont; Sally L. Dunwoodie; Nebojsa Jojic; Timo Lassmann; Deborah Mackay; I. Karen Temple; Axel Visel; Gareth Baynam

doi:10.1016/j.cell.2019.02.040

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

Kym M. Boycott, Taila Hartley, Leslie G. Biesecker, Richard A. Gibbs, A. Micheil Innes, Olaf Riess, John Belmont, Sally L. Dunwoodie, Nebojsa Jojic, Timo Lassmann, Deborah Mackay, I. Karen Temple, Axel Visel, Gareth Baynam

Research output: Contribution to journal › Comment/debate

77 Citations (Scopus)

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.

Original language	English
Pages (from-to)	32-37
Number of pages	6
Journal	Cell
Volume	177
Issue number	1
DOIs	https://doi.org/10.1016/j.cell.2019.02.040
Publication status	Published - 21 Mar 2019

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title = "A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers",

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.",

author = "Boycott, {Kym M.} and Taila Hartley and Biesecker, {Leslie G.} and Gibbs, {Richard A.} and Innes, {A. Micheil} and Olaf Riess and John Belmont and Dunwoodie, {Sally L.} and Nebojsa Jojic and Timo Lassmann and Deborah Mackay and Temple, {I. Karen} and Axel Visel and Gareth Baynam",

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AU - Boycott, Kym M.

AU - Hartley, Taila

AU - Biesecker, Leslie G.

AU - Gibbs, Richard A.

AU - Innes, A. Micheil

AU - Riess, Olaf

AU - Belmont, John

AU - Dunwoodie, Sally L.

AU - Jojic, Nebojsa

AU - Lassmann, Timo

AU - Mackay, Deborah

AU - Temple, I. Karen

AU - Visel, Axel

AU - Baynam, Gareth

PY - 2019/3/21

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N2 - 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.

AB - 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.

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DO - 10.1016/j.cell.2019.02.040

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SN - 0092-8674

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EP - 37

JO - Cell

JF - Cell

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

Abstract

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