Bioinformatics · 2008 · 278 citations · 23 references
Life SciencesBioinformaticsGeneticsComputational BiologyGenomicsMedical GeneticsFunctional GenomicsMutation AnalysisVariant AnalysisVariant DetectionComputational Variant Effect PredictionLoss-of-function Variant AnalysisMutation Effect PredictionNeutral MutationsProtein Mutation Effect PredictionReliability Index AnalysisReliability-based IndexVariant Effect Prediction
Abstract Summary: Many non-synonymous single nucleotide polymor-phisms (nsSNPs) in humans are suspected to impact protein function. Here, we present a publicly available server implementation of the method SNAP (screening for non-acceptable polymorphisms) that predicts the functional effects of single amino acid substitutions. SNAP identifies over 80% of the non-neutral mutations at 77% accuracy and over 76% of the neutral mutations at 80% accuracy at its default threshold. Each prediction is associated with a reliability index that correlates with accuracy and thereby enables experimentalists to zoom into the most promising predictions. Availability: Web-server: http://www.rostlab.org/services/SNAP; downloadable program available upon request. Contact: bromberg@rostlab.org Supplementary information: Supplementary data are available at Bioinformatics online.
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The Pfam Protein Families Database
Alex Bateman · Nucleic Acids Research · 2002 · 14.2K citations · Full text
dbSNP: the NCBI database of genetic variation
Stephen T. Sherry · Nucleic Acids Research · 2001 · 7.8K citations · Full text
SIFT: predicting amino acid changes that affect protein function
P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text