DNA sequence-level analyses reveal potential phenotypic modifiers in a large family with psychiatric disorders.

ABSTRACT: Psychiatric disorders are a group of genetically related diseases with highly polygenic architectures. Genome-wide association analyses have made substantial progress towards understanding the genetic architecture of these disorders. More recently, exome- and whole-genome sequencing of cases and families have identified rare, high penetrant variants that provide direct functional insight. There remains, however, a gap in the heritability explained by these complementary approaches. To understand how multiple genetic variants combine to modify both severity and penetrance of a highly penetrant variant, we sequenced 48 whole genomes from a family with a high loading of psychiatric disorder linked to a balanced chromosomal translocation. The (1;11)(q42;q14.3) translocation directly disrupts t

SUBMITTER: Ryan NM 

PROVIDER: S-EPMC6294736 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature