Performance of mutation pathogenicity prediction methods on missense variants

Human Mutation

Volumn 32, Issue 4, 2011, Pages 358-368

  Thusberg, Janita ^a,b   Olatubosun, Ayodeji ^a   Vihinen, Mauno ^a,c  

^a TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^b BUCK INSTITUTE FOR RESEARCH ON AGING   (United States)

^c TAMPERE UNIVERSITY HOSPITAL   (Finland)

Author keywords

Bioinformatics; Method evaluation; Pathogenicity prediction; SNPs

Indexed keywords

AMINO ACID;

ACCURACY; ALPHA HELIX; AMINO ACID SUBSTITUTION; ARTICLE; INTERMETHOD COMPARISON; MACHINE LEARNING; MISSENSE MUTATION; MUTPRED; NSSNPANALYZER; PANTHER; PATHOGENICITY; PHD-SNP; POLYMORPHISM PHENOTYPING; POLYMORPHISM PHENOTYPING 2; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; PROTEIN STRUCTURE; SCREENING FOR NONACCEPTABLE POLYMORPHISMS; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; SNPSGO; SORTING INTOLERANT FROM TOLERANT; STRUCTURAL BIOINFORMATICS; SUPPORT VECTOR MACHINE;

COMPUTATIONAL BIOLOGY; GENETIC VARIATION; GENOME, HUMAN; HUMANS; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79952764520     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21445     Document Type: Article

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