ArticleNucleic acids research2008
Joint annotation of coding and non-coding single nucleotide polymorphisms and mutations in the SNPeffect and PupaSuite databases.
Article in Nucleic acids research, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.Circulation research · 2017Pooled it
- Identification of six new susceptibility loci for invasive epithelial ovarian cancer.Nature genetics · 2015Pooled it
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- Variant Impact Predictor database (VIPdb), version 2: Trends from 25 years of genetic variant impact predictors.bioRxiv : the preprint server for biology · 2024Article
- Identifying Relationships betweenAnimals : an open access journal from MDPI · 2024Article
- Multiple genetic factors affecting the pharmacokinetic and pharmacodynamic processes of tacrolimus in Chinese myasthenia gravis patients.European journal of clinical pharmacology · 2020Article
- Lack of Association between NYD-SP18 Variant and Obesity. The Health Alcohol and Psychosocial Factors in Eastern Europe Study.Annals of nutrition & metabolism · 2016Article
- The role of the interactome in the maintenance of deleterious variability in human populations.Molecular systems biology · 2014Article
- Identification of candidate genes for drought tolerance by whole-genome resequencing in maize.BMC plant biology · 2014Article
- Wnt-related genes and large-joint osteoarthritis: association study and replication.Rheumatology international · 2013Article
- Network-based analysis of genome wide association data provides novel candidate genes for lipid and lipoprotein traits.Molecular & cellular proteomics : MCP · 2013Article
- Polymorphisms in the gene regions of the adaptor complex LAMTOR2/LAMTOR3 and their association with breast cancer risk.PloS one · 2013Article
- New advances in the genetic basis of atrial fibrillation.Journal of cardiovascular electrophysiology · 2012Review
- Bioinformatics for personal genome interpretation.Briefings in bioinformatics · 2012Review
- Common allelic variants of the farnesyl diphosphate synthase gene influence the response of osteoporotic women to bisphosphonates.The pharmacogenomics journal · 2012Article
- In silico profiling of deleterious amino acid substitutions of potential pathological importance in haemophlia A and haemophlia B.Journal of biomedical science · 2012Article
- SNPeffect 4.0: on-line prediction of molecular and structural effects of protein-coding variants.Nucleic acids research · 2012Article
- Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.American journal of human genetics · 2011Article
- Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing.PloS one · 2011Article
- Functional interactions as a survival strategy against abnormal aggregation.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2011Article
Corrections and comments
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Single nucleotide polymorphisms (SNPs) are, together with copy number variation, the primary source of variation in the human genome. SNPs are associated with altered response to drug treatment, susceptibility to disease and other phenotypic variation. Furthermore, during genetic screens for disease-associated mutations in groups of patients and control individuals, the distinction between disease causing mutation and polymorphism is often unclear. Annotation of the functional and structural implications of single nucleotide changes thus provides valuable information to interpret and guide experiments. The SNPeffect and PupaSuite databases are now synchronized to deliver annotations for both non-coding and coding SNP, as well as annotations for the SwissProt set of human disease mutations. In addition, SNPeffect now contains predictions of Tango2: an improved aggregation detector, and Waltz: a novel predictor of amyloid-forming sequences, as well as improved predictors for regions that are recognized by the Hsp70 family of chaperones. The new PupaSuite version incorporates predictions for SNPs in silencers and miRNAs including their targets, as well as additional methods for predicting SNPs in TFBSs and splice sites. Also predictions for mouse and rat genomes have been added. In addition, a PupaSuite web service has been developed to enable data access, programmatically. The combined database holds annotations for 4,965,073 regulatory as well as 133,505 coding human SNPs and 14,935 disease mutations, and phenotypic descriptions of 43,797 human proteins and is accessible via http://snpeffect.vib.be and http://pupasuite.bioinfo.cipf.es/.
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