Ontology highlight
ABSTRACT:
SUBMITTER: Cameron-Christie S
PROVIDER: S-EPMC6551770 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Cameron-Christie Sophia S Wolock Charles J CJ Groopman Emily E Petrovski Slavé S Kamalakaran Sitharthan S Povysil Gundula G Vitsios Dimitrios D Zhang Mengqi M Fleckner Jan J March Ruth E RE Gelfman Sahar S Marasa Maddalena M Li Yifu Y Sanna-Cherchi Simone S Kiryluk Krzysztof K Allen Andrew S AS Fellström Bengt C BC Haefliger Carolina C Platt Adam A Goldstein David B DB Gharavi Ali G AG
Journal of the American Society of Nephrology : JASN 20190513 6
<h4>Background</h4>Studies have identified many common genetic associations that influence renal function and all-cause CKD, but these explain only a small fraction of variance in these traits. The contribution of rare variants has not been systematically examined.<h4>Methods</h4>We performed exome sequencing of 3150 individuals, who collectively encompassed diverse CKD subtypes, and 9563 controls. To detect causal genes and evaluate the contribution of rare variants we used collapsing analysis, ...[more]