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Discovering the genetic etiologies of rare diseases in large patient collections


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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Fig. 1: BeviMed analysis of the 100KGP.


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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. (2023).

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Discovering the genetic etiologies of rare diseases in large patient collections. Nat Med 29, 543–544 (2023).

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