ReviewInternational journal of molecular sciences2014
Computational and experimental approaches to reveal the effects of single nucleotide polymorphisms with respect to disease diagnostics.
Review in International journal of molecular sciences, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- Electrostatics and disease: Large-scale assessment of human missense variants causing protein charge alterations and their implications for disease.Biophysical journal · 2026Article
- Bioinformatics-driven identification of pathogenic missense nsSNPs in the human proto-oncogene SRC and cancer susceptibility.Journal, genetic engineering & biotechnology · 2025Article
- AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes.Human genomics · 2024Article
- Internal Standardization of the Interpretation and Reporting of Sequence Variants in Hematologic Neoplasms.Molecular diagnosis & therapy · 2021Article
- In Silico Genetics Revealing 5 Mutations inCancer informatics · 2019Article
- Detecting the polymorphism of TERF1 gene by an improved PCR-RFLP method.Journal of clinical laboratory analysis · 2018Article
- Forces and Disease: Electrostatic force differences caused by mutations in kinesin motor domains can distinguish between disease-causing and non-disease-causing mutations.Scientific reports · 2017Article
- Single-Nucleotide Polymorphism of PPARγ, a Protein at the Crossroads of Physiological and Pathological Processes.International journal of molecular sciences · 2017Article
- SAAMBE: Webserver to Predict the Charge of Binding Free Energy Caused by Amino Acids Mutations.International journal of molecular sciences · 2016Article
- SAAFEC: Predicting the Effect of Single Point Mutations on Protein Folding Free Energy Using a Knowledge-Modified MM/PBSA Approach.International journal of molecular sciences · 2016Article
- The Association between Gene-Environment Interactions and Diseases Involving the Human GST Superfamily with SNP Variants.International journal of environmental research and public health · 2016Review
- Investigating the linkage between disease-causing amino acid variants and their effect on protein stability and binding.Proteins · 2016Article
- Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.International journal of breast cancer · 2016Review
- Impact of Rett Syndrome Mutations on MeCP2 MBD Stability.Biochemistry · 2015Article
- Computational approaches to study the effects of small genomic variations.Journal of molecular modeling · 2015Review
- CoagVDb: a comprehensive database for coagulation factors and their associated SAPs.Biological research · 2015Article
- Structural and physico-chemical effects of disease and non-disease nsSNPs on proteins.Current opinion in structural biology · 2015Review
- On human disease-causing amino acid variants: statistical study of sequence and structural patterns.Human mutation · 2015Article
- Types and effects of protein variations.Human genetics · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
DNA mutations are the cause of many human diseases and they are the reason for natural differences among individuals by affecting the structure, function, interactions, and other properties of DNA and expressed proteins. The ability to predict whether a given mutation is disease-causing or harmless is of great importance for the early detection of patients with a high risk of developing a particular disease and would pave the way for personalized medicine and diagnostics. Here we review existing methods and techniques to study and predict the effects of DNA mutations from three different perspectives: in silico, in vitro and in vivo. It is emphasized that the problem is complicated and successful detection of a pathogenic mutation frequently requires a combination of several methods and a knowledge of the biological phenomena associated with the corresponding macromolecules.
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What OpenQuestion holds
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.