Article
Outcome of over 1500 matches through the Matchmaker Exchange for rare disease gene discovery: The 2-year experience of Care4Rare Canada.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2022
Osmond Matthew, Hartley Taila, Dyment David A, Kernohan Kristin D, Brudno Michael, Buske Orion J, Innes A Micheil, Boycott Kym M
Abstract excerpt
PURPOSE: Matchmaking has emerged as a useful strategy for building evidence toward causality of novel disease genes in patients with undiagnosed rare diseases. The Matchmaker Exchange (MME) is a collaborative initiative that facilitates international data sharing for matchmaking purposes; however, data on user experience is limited. METHODS: Patients enrolled as part of the Finding of Rare Disease Genes in Canada...
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