ReviewHuman genetics2018
Principles and methods of in-silico prioritization of non-coding regulatory variants.
Review in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis 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.
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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
27 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.Nature genetics · 2023Pooled it
- Molecular evolution in light of regulatory-coding epistasis.EMBO reports · 2026Review
- Comprehensive molecular impact mapping of common and rare variants at GWAS loci.bioRxiv : the preprint server for biology · 2025Article
- A statistical framework for multi-trait rare variant analysis in large-scale whole-genome sequencing studies.Nature computational science · 2025Article
- Disease-specific prioritization of non-coding GWAS variants based on chromatin accessibility.HGG advances · 2024Article
- Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements.Cellular and molecular life sciences : CMLS · 2024Review
- SUMMIT-FA: a new resource for improved transcriptome imputation using functional annotations.Human molecular genetics · 2024Article
- Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases.Frontiers in bioscience (Scholar edition) · 2024Review
- A statistical framework for powerful multi-trait rare variant analysis in large-scale whole-genome sequencing studies.bioRxiv : the preprint server for biology · 2023Article
- Gene-based burden scores identify rare variant associations for 28 blood biomarkers.BMC genomic data · 2023Article
- RegVar: Tissue-specific Prioritization of Non-coding Regulatory Variants.Genomics, proteomics & bioinformatics · 2023Article
- Disease-associated non-coding variants alter NKX2-5 DNA-binding affinity.Biochimica et biophysica acta. Gene regulatory mechanisms · 2023Article
- TIVAN-indel: a computational framework for annotating and predicting non-coding regulatory small insertions and deletions.Bioinformatics (Oxford, England) · 2023Article
- FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.Nucleic acids research · 2023Article
- A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.Nature methods · 2022Article
- The Role of Long Noncoding RNAs on Male Infertility: A Systematic Review and In Silico Analysis.Biology · 2022Review
- Whole exome sequencing identifies novel germline variants of SLC15A4 gene as potentially cancer predisposing in familial colorectal cancer.Molecular genetics and genomics : MGG · 2022Article
- 3DFAACTS-SNP: using regulatory T cell-specific epigenomics data to uncover candidate mechanisms of type 1 diabetes (T1D) risk.Epigenetics & chromatin · 2022Article
- GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.Nucleic acids research · 2022Article
- A multi-dimensional integrative scoring framework for predicting functional variants in the human genome.American journal of human genetics · 2022Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Over a decade of genome-wide association, studies have made great strides toward the detection of genes and genetic mechanisms underlying complex traits. However, the majority of associated loci reside in non-coding regions that are functionally uncharacterized in general. Now, the availability of large-scale tissue and cell type-specific transcriptome and epigenome data enables us to elucidate how non-coding genetic variants can affect gene expressions and are associated with phenotypic changes. Here, we provide an overview of this emerging field in human genomics, summarizing available data resources and state-of-the-art analytic methods to facilitate in-silico prioritization of non-coding regulatory mutations. We also highlight the limitations of current approaches and discuss the direction of much-needed future research.
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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.