ArticleBioEssays : news and reviews in molecular, cellular and developmental biology2014
Functional interpretation of non-coding sequence variation: concepts and challenges.
Article in BioEssays : news and reviews in molecular, cellular and developmental biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Brain imaging genetics in ADHD and beyond - Mapping pathways from gene to disorder at different levels of complexity.Neuroscience and biobehavioral reviews · 2017Pooled it
- Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.Nature genetics · 2016Pooled it
- Epigenetic insights into high-altitude-induced venous thromboembolism: methylation signatures in Indian population.Molecular biology reports · 2026Article
- Genotype-Dependent Transcriptome Divergence Associated With Variation at vgll3 in Juvenile Gilthead Seabream (Sparus aurata).Molecular ecology · 2026Article
- AlphaGenome-enabled analysis of non-coding regulatory variants underlyingbioRxiv : the preprint server for biology · 2026Article
- Evolving computational paradigms for noncoding variant pathogenicity prediction.Frontiers in molecular biosciences · 2026Review
- Complex Sex Determination in the Grey MulletAnimals : an open access journal from MDPI · 2025Article
- Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells.Schizophrenia research · 2024Review
- Diversification and Functional Evolution of HOX Proteins.Frontiers in cell and developmental biology · 2022Review
- Leveraging supervised learning for functionally informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal eQTLs.Nature communications · 2021Article
- Postmortem brain tissue as an underutilized resource to study the molecular pathology of neuropsychiatric disorders across different ethnic populations.Neuroscience and biobehavioral reviews · 2019Review
- Chromatin accessibility prediction via a hybrid deep convolutional neural network.Bioinformatics (Oxford, England) · 2018Article
- Open Chromatin Profiling in hiPSC-Derived Neurons Prioritizes Functional Noncoding Psychiatric Risk Variants and Highlights Neurodevelopmental Loci.Cell stem cell · 2017Article
- Identification of breast cancer associated variants that modulate transcription factor binding.PLoS genetics · 2017Article
- Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer.BMC genomics · 2017Article
- Long noncoding RNA variations in cardiometabolic diseases.Journal of human genetics · 2017Review
- eFORGE: A Tool for Identifying Cell Type-Specific Signal in Epigenomic Data.Cell reports · 2016Article
- Genome editing: the road of CRISPR/Cas9 from bench to clinic.Experimental & molecular medicine · 2016Review
- Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA).Journal of visualized experiments : JoVE · 2016Article
- Noncoding Genome-Wide Association Studies Variant for Obesity: Inroads Into Mechanism: An Overview From the AHA's Council on Functional Genomics and Translational Biology.Journal of the American Heart Association · 2016Article
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Understanding the functional mechanisms underlying genetic signals associated with complex traits and common diseases, such as cancer, diabetes and Alzheimer's disease, is a formidable challenge. Many genetic signals discovered through genome-wide association studies map to non-protein coding sequences, where their molecular consequences are difficult to evaluate. This article summarizes concepts for the systematic interpretation of non-coding genetic signals using genome annotation data sets in different cellular systems. We outline strategies for the global analysis of multiple association intervals and the in-depth molecular investigation of individual intervals. We highlight experimental techniques to validate candidate (potential causal) regulatory variants, with a focus on novel genome-editing techniques including CRISPR/Cas9. These approaches are also applicable to low-frequency and rare variants, which have become increasingly important in genomic studies of complex traits and diseases. There is a pressing need to translate genetic signals into biological mechanisms, leading to prognostic, diagnostic and therapeutic advances.
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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.