Splicing-specific transcriptome-wide association uncovers genetic mechanisms for schizophrenia.

ABSTRACT: Recent studies have highlighted the essential role of RNA splicing, a key mechanism of alternative RNA processing, in establishing connections between genetic variations and disease. Genetic loci influencing RNA splicing variations show considerable influence on complex traits, possibly surpassing those affecting total gene expression. Dysregulated RNA splicing has emerged as a major potential contributor to neurological and psychiatric disorders, likely due to the exceptionally high prevalence of alternatively spliced genes in the human brain. Nevertheless, establishing direct associations between genetically altered splicing and complex traits has remained an enduring challenge. We introduce Spliced-Transcriptome-Wide Associations (SpliTWAS) to integrate alternative splicing information

SUBMITTER: Hervoso JL 

PROVIDER: S-EPMC11339621 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature