ReviewAmerican journal of human genetics2013
Beyond GWASs: illuminating the dark road from association to function.
Review in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 460 papers, 7 of them syntheses that pooled it.
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
460 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Genome-Wide Association Study of Chronic Dizziness in the Elderly Identifies Loci Implicating MLLT10, BPTF, LINC01224, and ROS1.Journal of the Association for Research in Otolaryngology : JARO · 2023Pooled it
- Establishing gene regulatory networks from Parkinson's disease risk loci.Brain : a journal of neurology · 2022Pooled it
- The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases.BMC medical genomics · 2022Pooled it
- Variance-component-based meta-analysis of gene-environment interactions for rare variants.G3 (Bethesda, Md.) · 2021Pooled it
- Independent replications and integrative analyses confirm TRANK1 as a susceptibility gene for bipolar disorder.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2021Pooled it
- A Systematic Review and Recommendations Around Frameworks for Evaluating Scientific Validity in Nutritional Genomics.Frontiers in nutrition · 2021Pooled it
- Genetic Susceptibility to Drug Teratogenicity: A Systematic Literature Review.Frontiers in genetics · 2021Pooled it
- Functional Annotation of Alzheimer's Disease-Associated SNPs Based on Three-Dimensional Chromatin Structure.International journal of molecular sciences · 2026Article
- The dark genome in cardiovascular medicine.European heart journal · 2026Review
- Exploring the use of machine and deep learning in genome-wide association studies: a comprehensive review.BioData mining · 2026Review
- Single-nucleus epigenomic dysregulation unmasks genetic risk-associated neurodegenerative glia states.Nature communications · 2026Article
- Comparative fine-mapping of breast cancer susceptibility loci using summary statistics methods and multinomial regression.medRxiv : the preprint server for health sciences · 2026Article
- Rare variant optimized GWAS with functional validation identifies causal architecture of kidney function in East Asian population.Scientific reports · 2026Article
- Genome-wide Association Study Reveals Novel Growth-related SNPs and Candidate Genes in Grass Carp (Ctenopharyngodon idella) Adapted to Hyper-salinity Stress.Marine biotechnology (New York, N.Y.) · 2026Article
- Decoding non-coding SNPs: systems genomics modelling dissects the heterogeneity of IBD.Molecular systems biology · 2026Article
- Key genes and pathway differences between serrated polyps and conventional adenomas: insights from multi-omics.Translational cancer research · 2026Article
- A causal coding variant regulating alternative splicing ofScience advances · 2026Article
- Genetic control of non-coding RNAs in the human brain and their implications for complex traits.American journal of human genetics · 2026Article
- rs2357322 and rs17726078 Contribute to Breast Cancer Risk by Regulating DLX2 Expression.The breast journal · 2026Article
- Proteome-wide Mendelian randomization and colocalization analyses identify potential biomarkers for schizophrenia.Frontiers in psychiatry · 2026Article
400 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Genome-wide association studies (GWASs) have enabled the discovery of common genetic variation contributing to normal and pathological traits and clinical drug responses, but recognizing the precise targets of these associations is now the major challenge. Here, we review recent approaches to the functional follow-up of GWAS loci, including fine mapping of GWAS signal(s), prioritization of putative functional SNPs by the integration of genetic epidemiological and bioinformatic methods, and in vitro and in vivo experimental verification of predicted molecular mechanisms for identifying the targeted genes. The majority of GWAS-identified variants fall in noncoding regions of the genome. Therefore, this review focuses on strategies for assessing likely mechanisms affected by noncoding variants; such mechanisms include transcriptional regulation, noncoding RNA function, and epigenetic regulation. These approaches have already accelerated progress from genetic studies to biological knowledge and might ultimately guide the development of prognostic, preventive, and therapeutic measures.
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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.