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Identifying enhancer properties associated with genetic risk for complex traits using regulome-wide association studies
UMB Dataset

UID: 185

Author(s): Alex M. Casella, Carlo Colantuoni, Seth A. Ament* * Corresponding Author
Description
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.
Subject of Study
Subject Domain
Keywords
Access via NeMO Archive

Enhancer annotation files

Access Restrictions
Unrestricted access
Access Instructions
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.
Associated Publications
Data Type
Software Used
BEDtools
GOfuncR
LDSC (LD SCore) v1.0.1
MAGMA
Study Type
Observational
Dataset Format(s)
Plain Text, TIFF, LOC
Grant Support
F30MH120910/National Institute of Mental Health (U.S.)
R24MH114815/National Institute of Mental Health (U.S.)