Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia.

ABSTRACT: Despite considerable progress in schizophrenia genetics, most findings have been for large rare structural variants and common variants in well-imputed regions with few genes implicated from exome sequencing. Whole genome sequencing (WGS) can potentially provide a more complete enumeration of etiological genetic variation apart from the exome and regions of high linkage disequilibrium. We analyze high-coverage WGS data from 1162 Swedish schizophrenia cases and 936 ancestry-matched population controls. Our main objective is to evaluate the contribution to schizophrenia etiology from a variety of genetic variants accessible to WGS but not by previous technologies. Our results suggest that ultra-rare structural variants that affect the boundaries of topologically associated domains (TADs) inc

SUBMITTER: Halvorsen M 

PROVIDER: S-EPMC7160146 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature