LocusPackRat: An R Package to Support Prioritizing Candidate Genes from Large GWAS Intervals with Standardized Evidence Aggregation

Genome-wide association studies (GWAS) routinely implicate broad loci that span tens of megabases and contain dozens of genes, making the leap from locus to causal gene challenging, especially in model organism cohorts with reduced mapping resolution. We developed LocusPackRat, an easily extendable R package that assembles standardized 'packets' of evidence to accelerate candidate gene prioritization. Each packet merges study-specific information for each gene in a locus such as differential expression between conditions or presence of cis-eQTLs with functional/disease annotations pulled from InterMine and Open Targets. Packets are identically structured and easily disseminated to support side-by-side comparison and team review. We demonstrate LocusPackRat's efficacy on a recent GWAS study of cardiac hypertrophy and failure in the Collaborative Cross. LocusPackRat streamlines the transition from statistical associations to mechanistic hypotheses by providing a systematic, transparent framework for GWAS data integration, and is readily adaptable to other genetic reference populations or human cohorts.

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Publication Details

Journal
G3 Genes Genomes Genetics
Published
2026-03-28
DOI
https://doi.org/10.1093/g3journal/jkag081
Primary Topic
Genetic Associations and Epidemiology
Type
article
Field-Weighted Citation Impact
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article

LocusPackRat: An R Package to Support Prioritizing Candidate Genes from Large GWAS Intervals with Standardized Evidence Aggregation

Brian Gural, Todd Kimball, Anh Luu, Christoph D Rau
G3 Genes Genomes Genetics
Genetic Associations and Epidemiology
article

LocusPackRat: An R Package to Support Prioritizing Candidate Genes from Large GWAS Intervals with Standardized Evidence Aggregation

Brian Gural, Todd Kimball, Anh Luu, Christoph D Rau
article en

Abstract

Genome-wide association studies (GWAS) routinely implicate broad loci that span tens of megabases and contain dozens of genes, making the leap from locus to causal gene challenging, especially in model organism cohorts with reduced mapping resolution. We developed LocusPackRat, an easily extendable R package that assembles standardized 'packets' of evidence to accelerate candidate gene prioritization. Each packet merges study-specific information for each gene in a locus such as differential expression between conditions or presence of cis-eQTLs with functional/disease annotations pulled from InterMine and Open Targets. Packets are identically structured and easily disseminated to support side-by-side comparison and team review. We demonstrate LocusPackRat's efficacy on a recent GWAS study of cardiac hypertrophy and failure in the Collaborative Cross. LocusPackRat streamlines the transition from statistical associations to mechanistic hypotheses by providing a systematic, transparent framework for GWAS data integration, and is readily adaptable to other genetic reference populations or human cohorts.

G3 Genes Genomes Genetics
University of North Carolina at Chapel Hill (US)
Openalex Percentile: Top 3%
Genetic Associations and Epidemiology
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