This study introduces a novel application of the MAGMA (Multi-marker Analysis of GenoMic Annotation) software tool that enables testing for associations between enhancer attributes and risk to determine the enhancer characteristics that are associated with risk for schizophrenia.
The study uses the RWAS (Regulome Wide Association Study) framework to first collect enhancer annotations in a tissue relevant to the trait of interest, then identifies specific risk-associated enhancers by aggregating the effects of all SNPs (single nucleotide polymorphisms) that overlap the enhancer’s position in the genome, and finally, tests for associations of enhancer features with disease risk using a regression framework.
All enhancer annotation files are available on the NeMO Archive. Code can be found on GitHub. Additional data can be found within the article's supplementary materials.