Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10212414 | Gene | 2019 | 14 Pages |
Abstract
This review is targeted at bioinformaticians attentive in the characterization of regulatory variants, geneticists, molecular biologists attentive in understanding more about the nature and effective role of such variants from a functional point of views, and clinicians who may hope to learn about variants in human associated with a specific disease and find out what to do next to uncover how they impact on the underlying mechanisms.
Keywords
polymorphism phenotyping v2ChasmACCMCCPAPIANNLMTPsicRBFSIFTiFISHAUCProtein Variation Effect AnalyzerAbbreviationHOPEProtein ANalysis THrough Evolutionary RelationshipsPseudo amino acid compositionCombined Annotation Dependent DepletionMachine learning techniquesRandom forestAnnotationAccuracyArtificial Neural NetworkSNAPPhenotypePredictive powerSupport vector machineSVMSDMarea under the curveGene ontologyPathogenicPANTHERProtein stabilityPROVEANPolyPhen-2Genotype
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Authors
Marwa S. Hassan, A.A. Shaalan, M.I. Dessouky, Abdelaziz E. Abdelnaiem, Mahmoud ElHefnawi,