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Updated: Jan 27, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers
Kym M Boycott1, Taila Hartley1, Leslie G Biesecker2
1Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
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.
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