Beyond the Gene in Genetics: How Isoform-Resolved Analysis Empowers the Study of Both Common and Rare Genetic Variation

This record contains genetic association data and annotations used in the "Exploration of Genes and Isoforms in Genetic Data" interactive web application (https://services.healthtech.dtu.dk/shiny/qtl_gwas/), complementing the publication named "Beyond the Gene in Genetics: How Isoform-Resolved Analysis Empowers the Study of Both Common and Rare Genetic Variation" (https://www.medrxiv.org/content/10.1101/2025.03.31.25324931v1). qtl_gwas_data.Rdata / qtl_gwas_data.tar.gz: Contains: Significant QTLs processed from the EBI QTL database (geneListSigAnnot, txListSigAnnot) Significant GWAS traits strictly colocalized with at least one significant QTL (gwasHitsFilt) Available in both R (.Rdata) and CSV (inside .tar.gz) formats gencode.v39.annotation.gtf.txinfo.Rdata / gencode.v39.annotation.gtf.txinfo.csv.gz: Contains: GENCODE version 39 gene and transcript annotations Used for mapping and annotating gene identifiers Available in both R (.Rdata) and CSV formats These datasets support the exploration of genetic associations across multiple studies, providing both gene and transcript-level information integrated with GWAS data. The data is structured to facilitate both programmatic access through R (.Rdata), and general-purpose analysis through standard tabular (CSV) formats for flexibility in analysis approaches. For more information and use cases, please visit the web application or refer to the associated publication.