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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Databases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9311832/
https://www.ncbi.nlm.nih.gov/pubmed/35181971
http://dx.doi.org/10.1002/humu.24354

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9311832/
https://www.ncbi.nlm.nih.gov/pubmed/35181971
http://dx.doi.org/10.1002/humu.24354

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