Genomics4RD: An integrated platform to share Canadian deep‐phenotype and multiomic data for international rare disease gene discovery
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DOI: 10.1002/humu.24354
Abstract: 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… read more here.
Keywords: genomics4rd integrated; discovery; multiomic data; platform share ... See more keywords