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

Kym M. Boycott | Zendy; Taila Hartley | Zendy; Leslie G. Biesecker | Zendy; Richard A. Gibbs | Zendy; A. Micheil Innes | Zendy; Olaf Rieß | Zendy; John W. Belmont | Zendy; Sally L. Dunwoodie | Zendy; Nebojša Jojić | Zendy; Timo Lassmann | Zendy; Deborah Mackay | Zendy; I. Karen Temple | Zendy; Axel Visel | Zendy; Gareth Baynam | Zendy

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

Author(s) -

Kym M. Boycott,

Taila Hartley,

Leslie G. Biesecker,

Richard A. Gibbs,

A. Micheil Innes,

Olaf Rieß,

John W. Belmont,

Sally L. Dunwoodie,

Nebojša Jojić,

Timo Lassmann,

Deborah Mackay,

I. Karen Temple,

Axel Visel,

Gareth Baynam

Publication year - 2019

Publication title -

cell

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 26.304

H-Index - 776

eISSN - 1097-4172

pISSN - 0092-8674

DOI - 10.1016/j.cell.2019.02.040

Subject(s) - biology , genetics , horizon , computational biology , evolutionary biology , rare events , statistics , physics , mathematics , astronomy

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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