Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel.
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Summary
An effective approach to integrating the output of some of these tools into a unified classification is proposed based on a weighted average of the normalized scores of the individual methods (WAS), which shows that this WAS outperforms each individual method in the task of classifying missense SNVs as deleterious or neutral.
- Type
- article
- Published
- 2011-04-08
- Cited by
- 800
- References
- 38
- Access
- Open access
- OpenAlex
- https://openalex.org/W1987507232
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:6260839
Keywords
Missense mutation, Nonsynonymous substitution, Computer science, Machine learning, Complementarity (molecular biology)
References
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- Comprehensive genomic characterization defines human glioblastoma genes and core pathways
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- A method and server for predicting damaging missense mutations
- The IARC TP53 database: New online mutation analysis and recommendations to users
- Sequence‐based prediction of pathological mutations
- PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes
- Structure–function–rescue: the diverse nature of common p53 cancer mutants
- CanPredict: a computational tool for predicting cancer-associated missense mutations
- CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice.
- International network of cancer genome projects
- PMUT: a web-based tool for the annotation of pathological mutations on proteins
Cited by
- Implications of Population History of European Romani on Genetic Susceptibility to Disease
- Cpipe: a shared variant detection pipeline designed for diagnostic settings
- Identification of Deleterious and Disease Alleles in a General Population and Preterm Labor Patients
- A review study: Computational techniques for expecting the impact of non-synonymous single nucleotide variants in human diseases.
- In silico analysis of missense mutations in exons 1–5 of the F9 gene that cause hemophilia B
- Estudi de variants de significat desconegut en la síndrome de Lynch
- Evolutionary analysis of genetic variants involved in rare diseases
- Hereditary Colorectal Cancer; Identification, Characterization and Classification of Mutations
- AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration
- Estudio de la longitud telomérica e identificación de nuevos genes causales en el cáncer colorrectal hereditario no polipósico
- The use of next generation sequencing technologies to dissect the aetiologies of Parkinson's disease and dystonia
- Annotation of Sequence Variants in Cancer Samples: Processes and Pitfalls for Routine Assays in the Clinical Laboratory.
- Data Mining Techniques for the Life Sciences
- Functional and in silico assessment of MAX variants of unknown significance
- Disease Gene Candidate Discovery by Genome Sequencing: Improved Variant Filtering Tools.
- Detecting de novo mutations in intellectual disability.
- Models Predicting Effects of Missense Mutations in Oncogenesis
- The genetic basis for response to the Ketogenic diet in drug-resistant epilepsy
- Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome
- POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance
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