Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations

Exome and genome sequencing have rapidly transitioned from research methods to widely used clinical tests for diagnosing rare genetic diseases. We sought to synthesize the topics covered and appraise the development processes of clinical guidance documents generated by genetics professional organizations.

Lead Researchers

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  1. Taila Hartley

    Investigator, CHEO Research Institute

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  2. Kym M Boycott

    Senior Scientist, CHEO Research Institute

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