Nature Protocols · 2009 · 6.7K citations · 15 references
Life SciencesBioinformaticsMolecular BiologyComputational BiologyGenomicsMedical GeneticsFunctional GenomicsProtein Function AnnotationVariant AnalysisVariant DetectionVariant InterpretationComputational Variant Effect PredictionComputational Variant PredictionMissense Variant AnalysisProtein Function RelationshipsProtein Mutation Effect PredictionSynonymous MutationsVariant Effect Prediction
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SIFT: predicting amino acid changes that affect protein function
P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text
PANTHER: A Library of Protein Families and Subfamilies Indexed by Function
Paul D. Thomas, Michael J. Campbell, Anish Kejariwal et al. · Genome Research · 2003 · 3.1K citations · Full text
Predicting Deleterious Amino Acid Substitutions
Pauline C. Ng, Steven Henikoff · Genome Research · 2001 · 2.7K citations · Full text
Human non-synonymous SNPs: server and survey
Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text
Characterization of single-nucleotide polymorphisms in coding regions of human genes
Michele Cargill, David Altshuler, James Ireland et al. · Nature Genetics · 1999 · 1.6K citations