Article
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Human mutation - 1 Jun 2022
Driver Hannah G, Hartley Taila, Price E Magda, Turinsky Andrei L, Buske Orion J, Osmond Matthew, Ramani Arun K, Kirby Emily, Kernohan Kristin D, Couse Madeline, Elrick Hillary, Lu Kevin, Mashouri Pouria, Mohan Aarthi, So Delvin, Klamann Conor, Le Hannah G B H, Herscovich Andrea, Marshall Christian R, Statia Andrew, Canada Consortium Care Rare, Knoppers Bartha M, Brudno Michael, Boycott Kym M
Abstract excerpt
Despite recent progress in the understanding of the genetic etiologies of rare diseases (RDs), a significant number remain intractable to diagnostic and discovery efforts. Broad data collection and sharing of information among RD researchers is therefore critical. In 2018, the Care4Rare Canada Consortium launched the project C4R-SOLVE, a subaim of which was to collect, harmonize, and share both retrospective and...
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