Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Genetics Rare Disease 

To evaluate the diagnostic utility of publicly funded clinical exome sequencing (ES) for patients with suspected rare genetic diseases.

Lead Researchers

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Researchers

  1. Talia Hartley

    Investigator, CHEO Research Institute

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  2. Kym M Boycott

    Senior Scientist, CHEO Research Institute

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  3. David A. Dyment

    Investigator, CHEO Research Institute

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