ArticleGenome medicine2014
Approaches for establishing the function of regulatory genetic variants involved in disease.
Article in Genome medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed.
- Rare germline variants in canonical and candidate genes in apparently sporadic bilateral primary aldosteronism.Journal of the Endocrine Society · 2026Article
- AI-Guided Long Non-Coding RNA Target Discovery for Precision Medicine: Integrating GWAS, Multi-Omics, Experimental Validation, and RNA Therapeutics.Biomedicines · 2026Review
- Accelerating rare disease diagnostics by linking DNA and RNA through an explainable and interactive RNA-guided workflow.NAR genomics and bioinformatics · 2026Article
- Comparative Analysis of Deep Learning Models for Predicting Causative Regulatory Variants.Genes · 2025Article
- Promising candidate drug target genes for repurposing in cervical cancer: A bioinformatics-based approach.Narra J · 2024Article
- Investigating Neuron Degeneration in Huntington's Disease Using RNA-Seq Based Transcriptome Study.Genes · 2023Article
- Article
- Targeted Integration of Transgenes at the Mouse Gt(ROSA)26Sor Locus.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Joint disease-specificity at the regulatory base-pair level.Nature communications · 2021Article
- Role of Non-Coding Variants in Brugada Syndrome.International journal of molecular sciences · 2020Review
- Genetics of rheumatic fever and rheumatic heart disease.Nature reviews. Cardiology · 2020Review
- The IL-23/IL-17 pathway in human chronic inflammatory diseases-new insight from genetics and targeted therapies.Genes and immunity · 2019Review
- Anti-TNF Therapy in Spondyloarthritis and Related Diseases, Impact on the Immune System and Prediction of Treatment Responses.Frontiers in immunology · 2019Review
- Identification and characterization of GLDC as host susceptibility gene to severe influenza.EMBO molecular medicine · 2019Article
- AltHapAlignR: improved accuracy of RNA-seq analyses through the use of alternative haplotypes.Bioinformatics (Oxford, England) · 2018Article
- The human noncoding genome defined by genetic diversity.Nature genetics · 2018Article
- Integrating Next-Generation Genomic Sequencing and Mass Spectrometry To Estimate Allele-Specific Protein Abundance in Human Brain.Journal of proteome research · 2017Article
- Using GWAS to identify novel therapeutic targets for osteoporosis.Translational research : the journal of laboratory and clinical medicine · 2017Review
- Mouse Models of Human GWAS Hits for Obesity and Diabetes in the Post Genomic Era: Time for Reevaluation.Frontiers in endocrinology · 2017Article
- XGR software for enhanced interpretation of genomic summary data, illustrated by application to immunological traits.Genome medicine · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
Abstract
The diversity of regulatory genetic variants and their mechanisms of action reflect the complexity and context-specificity of gene regulation. Regulatory variants are important in human disease and defining such variants and establishing mechanism is crucial to the interpretation of disease-association studies. This review describes approaches for identifying and functionally characterizing regulatory variants, illustrated using examples from common diseases. Insights from recent advances in resolving the functional epigenomic regulatory landscape in which variants act are highlighted, showing how this has enabled functional annotation of variants and the generation of hypotheses about mechanism of action. The utility of quantitative trait mapping at the transcript, protein and metabolite level to define association of specific genes with particular variants and further inform disease associations are reviewed. Establishing mechanism of action is an essential step in resolving functional regulatory variants, and this review describes how this is being facilitated by new methods for analyzing allele-specific expression, mapping chromatin interactions and advances in genome editing. Finally, integrative approaches are discussed together with examples highlighting how defining the mechanism of action of regulatory variants and identifying specific modulated genes can maximize the translational utility of genome-wide association studies to understand the pathogenesis of diseases and discover new drug targets or opportunities to repurpose existing drugs to treat them.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.