PulseExploreJournal ClubDebatesTrendingResearchersJournals
Instagram
HomeExploreJournal ClubTrending
Synapse
⌘+K
Synapse
March 30, 2026G3 Genes Genomes Genetics0 citationsOpen Access

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

View Full Paper
BGBrian GuralTKTodd KimballALAnh Luu

Key Points

  • To develop a tool that aids in prioritizing candidate genes from extensive GWAS intervals.
  • Development of LocusPackRat in R for evidence aggregation.
  • Integration of gene information such as differential expression and eQTLs.
  • Use of functional and disease annotations from databases like InterMine and Open Targets.
  • LocusPackRat streamlines candidate gene prioritization from GWAS data.
  • Demonstrated efficacy on cardiac hypertrophy study in Collaborative Cross.
  • Facilitates systematic integration of genetic data to test hypotheses.

Abstract

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.

Ask AI
Helpful
Bookmark
Share
View Full Paper

Cite This Study

Gural et al. (2026) studied this question.

synapsesocial.com/papers/69c9c5c5f8fdd13afe0bdb16https://doi.org/10.1093/g3journal/jkag081
Ask AI
Helpful
Bookmark
Share
View Full Paper