How to use deleteriousness in a sentence? Find typical usage patterns (collocations)/phrases/context for "deleteriousness" and check conjugation/comparative form for "deleteriousness". Mastering all the usages of "deleteriousness" from sentence examples published by news publications.
Combined Annotation Dependent Depletion (CADD) is a tool that evaluates the deleteriousness of single nucleotide, insertion and deletion variants in the human genome. In contrast with other annotation tools that are restricted in scope, the CADD framework integrates multiple annotations into one metric. This is done by contrasting variants that survived natural selection with simulated mutations.
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The selected variants are usually resequenced for validation (by targeted Sanger sequencing). Validated genomic variants can then be analyzed for recurrences among affected individuals within the cohort. Pathogenicity of a genomic variant is statistically based on its significantly abundant presence in the affected compared to the unaffected individuals, not exclusively on the deleteriousness of the variant. A candidate variant can then be associated with a shared phenotype with the aspiration that as more patients baring the same variant with the same phenotype will be identified, a stronger association can be made.
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Non-synonymous is the variant in exons that change the amino acid sequence encoded by the gene, including single base changes and non frameshift indels. It has been extremely investigated the function of non-synonymous variants on protein and many algorithms have been developed to predict the deleteriousness and pathogenesis of single nucleotide variants (SNVs). Classical bioinformatics tools, such as SIFT, Polyphen and MutationTaster, successfully predict the functional consequence of non- synonymous substitution.J. Wu, R. Jiang, "Prediction of Deleterious Nonsynonymous Single-Nucleotide Polymorphism for Human Diseases", The Scientific World Journal, 2013, 10 pages PopViz webserver provides a gene- centric approach to visualize the mutation damage prediction scores (CADD, SIFT, PolyPhen-2) or the population genetics (minor allele frequency) versus the amino acid positions of all coding variants of a certain human gene.
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