ReviewMutation research
Discovery and verification of functional single nucleotide polymorphisms in regulatory genomic regions: current and developing technologies.
Review in Mutation research. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 74 papers.
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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Who cites it
74 citing papers in PubMed, 179 citations in OpenAlex.
- Identification of SNPs in theInternational journal of molecular sciences · 2026Article
- Variants of the Progesterone Receptor Gene as Modulators of Risk for Idiopathic Spontaneous Premature Birth.International journal of molecular sciences · 2025Article
- Genomic factors associated with substance use disorder relapse: A critical review.Addictive behaviors reports · 2024Review
- Expression mechanisms of mir-486-5p and its host gene sANK1 in porcine muscle.Molecular biology reports · 2024Article
- Resf1 is a compound G4 quadruplex-associated tumor suppressor for triple negative breast cancer.PLoS genetics · 2024Article
- Functional genomics in inborn errors of immunity.Immunological reviews · 2024Review
- Genetic variants in the TAC1 transcriptional regulatory region affect on trainability and excitability levels in Belgian Malinois dogs.Veterinary medicine and science · 2024Article
- The Influence of Single Nucleotide Polymorphisms on Vitamin D Receptor Protein Levels and Function in Chronic Liver Disease.International journal of molecular sciences · 2023Article
- Type 2 diabetes mellitus and the risk of male infertility: a Mendelian randomization study.Frontiers in endocrinology · 2023Article
- Demographic pattern of A1/A2 beta casein variants indicates conservation of A2 type haplotype across native cattle breeds (3 Biotech · 2022Article
- Entailing the Next-Generation Sequencing and Metabolome for Sustainable Agriculture by Improving Plant Tolerance.International journal of molecular sciences · 2022Review
- Pooled resequencing of larvae and adults reveals genomic variations associated with Ostreid herpesvirus 1 resistance in the Pacific oysterFrontiers in immunology · 2022Article
- Sequence and haplotypes of ankyrin 1 gene (ANK1) and their association with carcass and meat quality traits in yak.Mammalian genome : official journal of the International Mammalian Genome Society · 2021Article
- Article
- Analysis of Trans-Ancestral SLE Risk Loci Identifies Unique Biologic Networks and Drug Targets in African and European Ancestries.American journal of human genetics · 2020Article
- Genetic polymorphisms influence gene expression of human periodontal ligament fibroblasts in the early phases of orthodontic tooth movement.Odontology · 2020Article
- A preliminary computational outputs versus experimental results: Application of sTRAP, a biophysical tool for the analysis of SNPs of transcription factor-binding sites.Molecular genetics & genomic medicine · 2020Article
- Comprehensive Analysis of the Chitinase Gene Family in Cucumber (International journal of molecular sciences · 2019Article
- Investigation of the variants at the binding site of inflammatory transcription factor NF-κB in patients with end-stage renal disease.BMC nephrology · 2019Article
- Genetic variants with gene regulatory effects are associated with diisocyanate-induced asthma.The Journal of allergy and clinical immunology · 2018Article
14 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
6 authors at 1 institution in 1 country.
Funding
Abstract
The most common form of genetic variation, single nucleotide polymorphisms or SNPs, can affect the way an individual responds to the environment and modify disease risk. Although most of the millions of SNPs have little or no effect on gene regulation and protein activity, there are many circumstances where base changes can have deleterious effects. Non-synonymous SNPs that result in amino acid changes in proteins have been studied because of their obvious impact on protein activity. It is well known that SNPs within regulatory regions of the genome can result in disregulation of gene transcription. However, the impact of SNPs located in putative regulatory regions, or rSNPs, is harder to predict for two primary reasons. First, the mechanistic roles of non-coding genomic sequence remain poorly defined. Second, experimental validation of the functional consequences of rSNPs is often slow and laborious. In this review, we summarize traditional and novel methodologies for candidate rSNPs selection, in particular in silico techniques that aid in candidate rSNP selection. Additionally we will discuss molecular biological techniques that assess the impact of rSNPs on binding of regulatory machinery, as well as functional consequences on transcription. Standard techniques such as EMSA and luciferase reporter constructs are still widely used to assess effects of rSNPs on binding and gene transcription; however, these protocols are often bottlenecks in the discovery process. Therefore, we highlight novel and developing high-throughput protocols that promise to aid in shortening the process of rSNP validation. Given the large amount of genomic information generated from a multitude of re-sequencing and genome-wide SNP array efforts, future focus should be to develop validation techniques that will allow greater understanding of the impact these polymorphisms have on human health and disease.
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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.