Ultrarare Missense Variants Implicated in Utah Pedigrees Multiply Affected With Schizophrenia.

ABSTRACT:

Background

Recent work from the Schizophrenia Exome Sequencing Meta-analysis (SCHEMA) consortium showed significant enrichment of ultrarare variants in schizophrenia cases. Family-based studies offer a unique opportunity to evaluate rare variants because risk in multiplex pedigrees is more likely to be influenced by the same collection of variants than an unrelated cohort.

Methods

Here, we examine whole genome sequencing data from 35 individuals across 6 pedigrees multiply affected by schizophrenia. We applied a rigorous filtering pipeline to search for classes of protein-coding variants that cosegregated with disease status, and we examined these for evidence of enrichment in the SCHEMA dataset. Additionally, we applied a family-based consensus approach to call copy number

SUBMITTER: Ormond C 

PROVIDER: S-EPMC10593875 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature