ArticleBriefings in bioinformatics2009
Next generation tools for the annotation of human SNPs.
Article in Briefings in bioinformatics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 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.
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
66 citing papers in PubMed.
- Genetic Variation in the Main Cultivar Collection ofCurrent issues in molecular biology · 2026Article
- Development ofIranian journal of biotechnology · 2022Article
- Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach.Scientific reports · 2020Article
- HLA-C: An Accomplice in Rheumatic Diseases.ACR open rheumatology · 2019Review
- Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan.Cancer research and treatment · 2019Article
- Advances in genetics of migraine.The journal of headache and pain · 2019Review
- GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations.Current genetic medicine reports · 2019Article
- Article
- In silico analysis of the V66M variant of human BDNF in psychiatric disorders: An approach to precision medicine.PloS one · 2019Article
- Using ALoFT to determine the impact of putative loss-of-function variants in protein-coding genes.Nature communications · 2017Article
- PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update.Nucleic acids research · 2017Article
- The Loss and Gain of Functional Amino Acid Residues Is a Common Mechanism Causing Human Inherited Disease.PLoS computational biology · 2016Article
- Proteogenomics: Integrating Next-Generation Sequencing and Mass Spectrometry to Characterize Human Proteomic Variation.Annual review of analytical chemistry (Palo Alto, Calif.) · 2016Review
- Review
- Towards Increasing the Clinical Relevance of In Silico Methods to Predict Pathogenic Missense Variants.PLoS computational biology · 2016Review
- GWASdb v2: an update database for human genetic variants identified by genome-wide association studies.Nucleic acids research · 2016Article
- Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.BMC medical genetics · 2015Article
- Visualizing genome and systems biology: technologies, tools, implementation techniques and trends, past, present and future.GigaScience · 2015Review
- Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.American journal of human genetics · 2014Article
- Single nucleotide variations: biological impact and theoretical interpretation.Protein science : a publication of the Protein Society · 2014Review
6 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
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Computational biology has the opportunity to play an important role in the identification of functional single nucleotide polymorphisms (SNPs) discovered in large-scale genotyping studies, ultimately yielding new drug targets and biomarkers. The medical genetics and molecular biology communities are increasingly turning to computational biology methods to prioritize interesting SNPs found in linkage and association studies. Many such methods are now available through web interfaces, but the interested user is confronted with an array of predictive results that are often in disagreement with each other. Many tools today produce results that are difficult to understand without bioinformatics expertise, are biased towards non-synonymous SNPs, and do not necessarily reflect up-to-date versions of their source bioinformatics resources, such as public SNP repositories. Here, I assess the utility of the current generation of webservers; and suggest improvements for the next generation of webservers to better deliver value to medical geneticists and molecular biologists.
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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.