Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases.

ABSTRACT:

Background

Copy number variants (CNVs) have been reported to be associated with diseases, traits, and evolution. However, it is hard to determine which gene should have priority as a target for further functional experiments if a CNV is rare or a singleton. In this study, we attempted to overcome this issue by using two approaches: by assessing the influences of gene dosage sensitivity and gene expression sensitivity. Dosage sensitive genes derived from two-round whole-genome duplication in previous studies. In addition, we proposed a cross-sectional omics approach that utilizes open data from GTEx to assess the effect of whole-genome CNVs on gene expression.

Methods

Affymetrix Genome-Wide SNP Array 6.0 was used to detect CNVs by PennCNV and CNV Workshop. After quality contr

SUBMITTER: Yamasaki M 

PROVIDER: S-EPMC7104509 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature