Isoform-level transcriptome-wide association uncovers extensive novel genetic risk mechanisms for neuropsychiatric disorders in the human brain

Abstract excerpt

<h4>ABSTRACT</h4> Integrative methods, like colocalization and transcriptome-wide association studies (TWAS), identify transcriptomic mechanisms at only a fraction of trait-associated genetic loci from genome-wide association studies (GWAS). Here, we show that a reliance on reference functional genomics panels of only total gene expression greatly contributes to this reduced discovery. This is particularly relevan...

Topics

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• Brain
• Gene Expression Profiling
• Genetic Predisposition to Disease
• Genome-Wide Association Study
• Polymorphism, Single Nucleotide
• Protein Isoforms
• Quantitative Trait Loci
• Transcriptome

Identifiers and source

Literature Corpus work

9a553359-49f5-5ffe-b215-dcb3940e0466

DOI

10.1101/2022.08.23.22279134