Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery

Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery

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 Conso...

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Bibliographic Details
Published in:Human mutation Vol. 43; no. 6; pp. 800 - 811
Main Authors: 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, Care4Rare, Knoppers, Bartha M., Brudno, Michael, Boycott, Kym M.
Format: Journal Article
Language:English
Published: United States Hindawi Limited 01-06-2022
John Wiley and Sons Inc
Subjects:
Canada
Computer applications
Data collection
data sharing
Data storage
deep phenotyping
Genetic Association Studies
genomic data
Genomics4RD
Humans
matchmaking
multiomic data
Phenotype
Phenotypes
Prospective Studies
rare disease database
Rare diseases
Rare Diseases - diagnosis
Rare Diseases - genetics
Retrospective Studies
Standardization
Canada
Genomics4RD
multiomic data
genomic data
matchmaking
rare disease database
deep phenotyping
data sharing
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Summary: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 prospective Canadian clinical and multiomic data. Here, we introduce Genomics4RD, an integrated web‐accessible platform to share Canadian phenotypic and multiomic data between researchers, both within Canada and internationally, for the purpose of discovering the mechanisms that cause RDs. Genomics4RD has been designed to standardize data collection and processing, and to help users systematically collect, prioritize, and visualize participant information. Data storage, authorization, and access procedures have been developed in collaboration with policy experts and stakeholders to ensure the trusted and secure access of data by external researchers. The breadth and standardization of data offered by Genomics4RD allows researchers to compare candidate disease genes and variants between participants (i.e., matchmaking) for discovery purposes, while facilitating the development of computational approaches for multiomic data analyses and enabling clinical translation efforts for new genetic technologies in the future. Here we present Genomics4RD, an integrated and internationally accessible web platform, to share, store, and visualize phenotypic and multiomic data from rare disease patients across Canada. Genomics4RD is connected to several other rare disease databases for the purposes of matchmaking and disease‐gene discovery.
Bibliography:Hannah G. Driver, Taila Hartley, Michael Brudno and Kym M. Boycott contributed equally to this study.
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ISSN:1059-7794
1098-1004
DOI:10.1002/humu.24354