MutationTaster evaluates disease-causing potential of sequence alterations

By J. M. Schwarz, C. Rödelsperger, M. Schuelke, D. Seelow. 2010

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Citations in the corpus

Better prediction of functional effects for sequence variants (2015, neutral): “Some tools are focused on non-coding regions [2-4]; others focus on coding regions and predict the effects of single amino acid variants (non-synonymous single-nucleotide polymorphisms, nsSNPs, or single amino acid substitutions, SAAS) on aspects such as protein structure [5], stability [6-8], bindi”
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data (2011, neutral): “Sequence features that are related to splicing regulation 73 are generally part of exome studies 7,8 and are also incorporated into some predictive methods 40 .”
The SAAP pipeline and database: tools to analyze the impact and predict the pathogenicity of mutations (2013, neutral): “have a deleterious effect on phenotype [4-15].”
A survey of tools for variant analysis of next-generation genome sequencing data (2013, methodology): “ANNOVAR uses six different scores: GERPþþ [121], LRT [122], MutationTaster [123], PolyPhen [124], PhyloP conservation [125] and SIFT [126].”
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge (2014, methodology): “Other tools listed by teams were PhyloP [58], likelihood ratio test scores (LRT) [59], MutationTaster [60], GERP [61], and in-house developed tools.”
Improved exome prioritization of disease genes through cross-species phenotype comparison (2014, methodology): “The scores of MutationTaster and PolyPhen-2 are such that the score ranges from 0 (benign) to 1 (maximally pathogenic).”
Next-generation diagnostics and disease-gene discovery with the Exomiser (2015, methodology): “…resource and from the IMPC 33 ; zebrafish data from ZFIN using the Zebrafish Anatomical Ontology 37 , Gene Ontology 42 and the PATO ontology of qualities 43 (and subsequently converted to a combined zebrafish phenotype term); pathogenicity predictions by MutationTaster 10,48 , Polyphen2 (ref.”
LIST-S2: taxonomy based sorting of deleterious missense mutations across species (2020, methodology): “0a (17) (namely: SIFT (1), SIFT4G (18), PROVEAN (2), phyloP (3) X 3, SiPhy (5), phastCons (6) X 3, GERP++ (4), Eigen (10), CADD (9), DANN (11), W158 Nucleic Acids Research, 2020, Vol. 48, Web Server issue PolyPhen-2 (8), FATHMM-MKL (19), PrimateAI (20), MutationTast (21), MutationAssessor (22), MPC ”