Cell type and condition specific functional annotation of schizophrenia associated non-coding genetic variants.

ABSTRACT: Schizophrenia (SCZ) is a highly polygenic disease and genome wide association studies have identified thousands of genetic variants that are statistically associated with this psychiatric disorder. However, our ability to translate these associations into insights on the disease mechanisms has been challenging since the causal genetic variants, their molecular function and their target genes remain largely unknown. In order to address these questions, we established a functional genomics pipeline in combination with induced pluripotent stem cell technology to functionally characterize ~35,000 non-coding genetic variants associated with schizophrenia along with their target genes. This analysis identified a set of 620 (1.7%) single nucleotide polymorphisms as functional on a molecular level

SUBMITTER: Rummel CK 

PROVIDER: S-EPMC10326990 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature