ReviewHuman molecular genetics2022
Demystifying non-coding GWAS variants: an overview of computational tools and methods.
Review in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 41 citations in OpenAlex.
- Prioritizing context-specific genetic risk mechanisms in 11 solid cancers.Journal of the National Cancer Institute · 2026Article
- Atlas of cell types and regulatory elements underlying human facial diversity.Nature genetics · 2026Article
- Precision pathophysiology in steatotic liver disease.Clinical and molecular hepatology · 2026Review
- SNPannotator: automated functional annotation of genetic variants and linked proxies.Bioinformatics (Oxford, England) · 2026Article
- An empirical Bayes framework for burden and dispersion association tests helps prioritize rare variants associated with Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Structural variants are enriched in deleterious visible phenotypes inGenome research · 2026Article
- Mapping functional non-coding variation in individual human genomes through haplotyping, multiomics, and deep learning.Nature communications · 2026Article
- Mapping the Extended Pain Pathway: Human Genetic and Multi-Omic Strategies for Next-Generation Analgesics.International journal of molecular sciences · 2026Review
- Chromatin dynamics identifies 78 genes at loci associated with elevated intraocular pressure and primary open-angle glaucoma.bioRxiv : the preprint server for biology · 2026Article
- Polygenic backgrounds influence phenotypic consequences of variants in cells, individuals, and populations.Cell genomics · 2026Review
- Evolving computational paradigms for noncoding variant pathogenicity prediction.Frontiers in molecular biosciences · 2026Review
- Integrative Analysis of Vitamin D-Associated Genetic Variants Reveals Cis-Regulatory Architecture and Multigenic Mechanisms Underlying Chronic Disease-Relevant Pathways.Human mutation · 2026Article
- Investigation of <italic>CLDN5</italic> Gene 3' Untranslated Region rs10314 Polymorphism and Protein Levels in Children and Adolescents with Attention-Deficit Hyperactivity Disorder: A Molecular and Clinical Correlation Study.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2026Article
- Genetic variants reshape the mScientific reports · 2025Article
- Prioritizing context-specific genetic risk mechanisms in 11 solid cancers.medRxiv : the preprint server for health sciences · 2025Article
- A Biologically Informed and Efficient DNA Sequence Learner for Predicting Functional Genomics Events.Journal of computational biology : a journal of computational molecular cell biology · 2025Article
- Genome-wide association study of agronomic traits in winter wheat (Triticum aestivum L.) using a custom SNP marker set.BMC plant biology · 2025Article
- Mapping multitissue regulatory variants reveals a liver-centric coexpression network associated with duck egg-laying performance.Genome research · 2025Article
- Article
- Adversarial attack of sequence-free enhancer prediction identifies chromatin architecture.Bioinformatics (Oxford, England) · 2025Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genome-wide association studies (GWAS) have found the majority of disease-associated variants to be non-coding. Major efforts into the charting of the non-coding regulatory landscapes have allowed for the development of tools and methods which aim to aid in the identification of causal variants and their mechanism of action. In this review, we give an overview of current tools and methods for the analysis of non-coding GWAS variants in disease. We provide a workflow that allows for the accumulation of in silico evidence to generate novel hypotheses on mechanisms underlying disease and prioritize targets for follow-up study using non-coding GWAS variants. Lastly, we discuss the need for comprehensive benchmarks and novel tools for the analysis of non-coding variants.
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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.