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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
March 2019
March 2019
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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.