ReviewTheScientificWorldJournal2013
Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases.
Review in TheScientificWorldJournal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 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
33 citing papers in PubMed.
- Uncovering the protein aggregation process through effect of G41D mutant SOD1 charge variation in ALS disease.Scientific reports · 2025Article
- Prediction the functional impacts of highly deleterious non-synonymous variants ofMolecular biology research communications · 2025Article
- Mutation/metal deficiency in the "electrostatic loop" enhanced aggregation process in apo/holo SOD1 variants: implications for ALS diseases.BMC chemistry · 2024Article
- Rapid discrimination between deleterious and benign missense mutations in the CAGI 6 experiment.Human genomics · 2024Article
- Identification and analysis of oncogenic non-synonymous single nucleotide polymorphisms in the human NRAS gene: An exclusive in silico study.Journal, genetic engineering & biotechnology · 2024Article
- Article
- Computational study of the motor neuron protein KIF5A to identify nsSNPs, bioactive compounds, and its key regulators.Frontiers in genetics · 2023Article
- Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.Frontiers in oncology · 2022Article
- Article
- Whole Genome Sequencing Reveals the Effects of Recent Artificial Selection on Litter Size of Bamei Mutton Sheep.Animals : an open access journal from MDPI · 2021Article
- Risk prediction and marker selection in nonsynonymous single nucleotide polymorphisms using whole genome sequencing data.Animal cells and systems · 2020Article
- Review
- SNP Variation ofFrontiers in genetics · 2019Article
- Editorial focus: understanding off-target effects as the key to successful RNAi therapy.Cellular & molecular biology letters · 2019Review
- In silico analysis of the V66M variant of human BDNF in psychiatric disorders: An approach to precision medicine.PloS one · 2019Article
- Do environmentally induced DNA variations mediate adaptation in Aspergillus flavus exposed to chromium stress in tannery sludge?BMC genomics · 2018Article
- Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease.Frontiers in aging neuroscience · 2018Article
- SNPs in microRNA target sites and their potential role in human disease.Open biology · 2017Review
- IMHOTEP-a composite score integrating popular tools for predicting the functional consequences of non-synonymous sequence variants.Nucleic acids research · 2017Article
- Whole-genome scanning for the litter size trait associated genes and SNPs under selection in dairy goat (Capra hircus).Scientific reports · 2016Article
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
The identification of genetic variants that are responsible for human inherited diseases is a fundamental problem in human and medical genetics. As a typical type of genetic variation, nonsynonymous single-nucleotide polymorphisms (nsSNPs) occurring in protein coding regions may alter the encoded amino acid, potentially affect protein structure and function, and further result in human inherited diseases. Therefore, it is of great importance to develop computational approaches to facilitate the discrimination of deleterious nsSNPs from neutral ones. In this paper, we review databases that collect nsSNPs and summarize computational methods for the identification of deleterious nsSNPs. We classify the existing methods for characterizing nsSNPs into three categories (sequence based, structure based, and annotation based), and we introduce machine learning models for the prediction of deleterious nsSNPs. We further discuss methods for identifying deleterious nsSNPs in noncoding variants and those for dealing with rare variants.
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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.