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.