Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy
Maria Kousi, Onuralp Söylemez, Ayşegül Ozantürk, Niki Mourtzi, Sebastian Akle, Irwin Jungreis, Jean Muller, Christopher A. Cassa, Harrison Brand, Jill Anne Mokry, Maxim Y. Wolf, Azita Sadeghpour, Kelsey McFadden, Richard Alan Lewis, Michael E. Talkowski, , Nicholas Katsanis
The paper analyzes secondary-variant burden in BBS cohorts and finds enrichment of trans-acting rare nonsynonymous variants in chaperonin-encoding genes.
Nature Genetics · Oct 12, 2020Peer-reviewedGenetics