Useful Links Related to Disease Associated Mutations

This page gives useful links related to prediction of disease associated mutations and research.
S. No.MethodYearTypeDescriptionReference
1SIFT (Sorting Intolerant From Tolerant)2003AACPredicting amino acid changes that affect protein function12824425
2PhD-SNP2006with support vector machines and evolutionary informationPredicting the insurgence of human genetic diseases associated to single point protein mutations16895930
3SeqProfCod2008protein sequence, multiple protein sequence alignments, and the estimation of selective pressure at the codon levelUse of estimated evolutionary strength at the codon level improves the prediction of disease-related protein mutations in humans.17935148
4SNPs&GO2009protein sequence, evolutionary information, and function as encoded in the Gene Ontology termsFunctional annotations improve the predictive score of human disease-related mutations in proteins19514061
5Mutationassessor2011evolutionary conservation patternsPredicting the functional impact of protein mutations: application to cancer genomics21727090
62011Review+DatasetsPerformance of mutation pathogenicity prediction methods on missense variants.21412949
7Combined Annotation scoRing toOL (CAROL)2012MetaServerA Combined Functional Annotation Score for Non-Synonymous Variants22261837
8FunSAV2012two-stage random forest modelpredicting the functional effect of single amino acid variants22937107
9Functional Analysis Through Hidden Markov Models (FATHMM)2013Domain + hidden Markov modelsPredicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models.23033316
10WS-SNPs&GO2013GO termsPredicting disease associated variations using GO terms23819482
11Meta-SNP2013MetaServerCollective judgment predicts disease-associated single nucleotide variants.23819846
12CoVEC (Consensus Variant Effect Classification)2013MetaServerPredicting the functional consequences of non-synonymous DNA sequence variants23831115
13Cancer-specific High-throughput Annotation of Somatic Mutations (CHASM)2013protein sequence, evolutionary information, and function as encoded in the Gene Ontology termsPredicting the functional consequences of somatic missense mutations found in tumors.24233781
14PolyPhen-2 (Polymorphism Phenotyping v2)2013structural and comparative evolutionary considerationsPredicting functional effect of human missense mutations23315928
15PredictSNP2014MetaServerconsensus classifier for prediction of disease-related mutations24453961
16SuSPect (Disease-Susceptibility-based SAV Phenotype Prediction)2014Using Network FeaturesEnhanced Prediction of Single Amino Acid Variant (SAV) Phenotype 24810707
17PON-P22015evolutionary information+protein properties( 622 features)PON-P2: prediction method for fast and reliable identification of harmful variants.25647319
18SNAP22015evolutionary information+protein propertiesBetter prediction of functional effects for sequence variants.26110438
192015Review+DatasetsThe evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.25684150