Ontology highlight
ABSTRACT:
SUBMITTER: Kousi M
PROVIDER: S-EPMC8272915 | biostudies-literature | 2020 Nov
REPOSITORIES: biostudies-literature
Kousi Maria M Söylemez Onuralp O Ozanturk Aysegül A Mourtzi Niki N Akle Sebastian S Jungreis Irwin I Muller Jean J Cassa Christopher A CA Brand Harrison H Mokry Jill Anne JA Wolf Maxim Y MY Sadeghpour Azita A McFadden Kelsey K Lewis Richard A RA Talkowski Michael E ME Dollfus Hélène H Kellis Manolis M Davis Erica E EE Sunyaev Shamil R SR Katsanis Nicholas N
Nature genetics 20201012 11
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 significant enrichment of trans-acting rare nonsynonymous secondary variants in patient ...[more]