Article
Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy.
Nature genetics - 1 Nov 2020
Kousi Maria, Söylemez Onuralp, Ozanturk Aysegül, Mourtzi Niki, Akle Sebastian, Jungreis Irwin, Muller Jean, Cassa Christopher A, Brand Harrison, Mokry Jill Anne, Wolf Maxim Y, Sadeghpour Azita, McFadden Kelsey, Lewis Richard A, Talkowski Michael E, Dollfus Hélène, Kellis Manolis, Davis Erica E, Sunyaev Shamil R, Katsanis Nicholas
Abstract excerpt
The influence of genetic background on driver mutations is well established; however, the mechanisms by which the background interacts with Mendelian loci remain unclear. We performed a systematic secondary-variant burden analysis of two independent cohorts of patients with Bardet-Biedl syndrome (BBS) with known recessive biallelic pathogenic mutations in one of 17 BBS genes for each individual. We observed a...
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