Article
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Nature medicine - 1 Mar 2023
Greene Daniel, Pirri Daniela, Frudd Karen, Sackey Ege, Al-Owain Mohammed, Giese Arnaud P J, Ramzan Khushnooda, Riaz Sehar, Yamanaka Itaru, Boeckx Nele, Thys Chantal, Gelb Bruce D, Brennan Paul, Hartill Verity, Harvengt Julie, Kosho Tomoki, Mansour Sahar, Masuno Mitsuo, Ohata Takako, Stewart Helen, Taibah Khalid, Turner Claire L S, Imtiaz Faiqa, Riazuddin Saima, Morisaki Takayuki, Ostergaard Pia, Loeys Bart L, Morisaki Hiroko, Ahmed Zubair M, Birdsey Graeme M, Freson Kathleen, Mumford Andrew, Turro Ernest
Abstract excerpt
The genetic etiologies of more than half of rare diseases remain unknown. Standardized genome sequencing and phenotyping of large patient cohorts provide an opportunity for discovering the unknown etiologies, but this depends on efficient and powerful analytical methods. We built a compact database, the 'Rareservoir', containing the rare variant genotypes and phenotypes of 77,539 participants sequenced by the...
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