We developed a compact database, called a ‘Rareservoir’, that contains the rare variant genotypes and phenotypes of 34,523 patients with a rare disease and 43,016 unaffected relatives. We inferred 260 genetic associations with rare disease classes, of which 19 were previously unidentified, and validated etiological roles for ERG, PMEPA1 and GPR156.
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This is a summary of: Greene, D. et al. Genetic association analysis of 77,539 genomes reveals rare disease etiologies. Nat. Med. https://doi.org/10.1038/s41591-023-02211-z (2023).
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Discovering the genetic etiologies of rare diseases in large patient collections. Nat Med 29, 543–544 (2023). https://doi.org/10.1038/s41591-023-02218-6