Deleteriousness legal definition of deleteriousness

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As an important feature for studying the deleteriousness of an nsSNP, the conservation score is used by most of prediction methods with their own way of calculation.

Prediction of deleterious nonsynonymous single-nucleotide polymorphism for human diseases

The online free tool Combined Annotation-Dependent Depletion (CADD, http://cadd.gs.washington.edu/),[sup][19] a newly developed framework that integrates diverse annotations into a single quantitative score (C-score) to measure the deleteriousness of SNVs and small InDels, was used to evaluate the pathogenicity of the deletion.

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts

Computational tools for protein-sequence-based prediction of deleteriousness fall into two categories: constraint-based predictors such as MAPP and SIFT, and trained classifiers such as MutationTaster and polyPhen.

Computational and bioinformatics frameworks for Next-generation whole exome and genome sequencing

According to the SIFT analysis, 75 of 345 nsSNPs were classified as being deleterious (for some SNPs, there was low confidence in the findings regarding deleteriousness).

In silico approaches to discover the functional impact of non-synonymous single nucleotide polymorphisms in selective sweep regions of the Landrace genome

Lopez-Bigas, "Improving the assessment of the outcome of nonsynonymous SNVs with a consensus deleteriousness score, Condel," The American Journal of Human Genetics, vol.

Histopathological Characterization and Whole Exome Sequencing of Ectopic Thyroid: Fetal Architecture in a Functional Ectopic Gland from Adult Patient

MetaSVM is a support vector machine based prediction, which classifies amino acid substitutions as tolerated or damaging by incorporating deleteriousness scores produced by 9 individual algorithms: SIFT, PolyPhen-2, GERP++, Mutation Taster, Mutation Assessor, FATHMM, LRT, SiPhy, and PhyloP.

NOTCH1 Mutations in Aortic Stenosis: Association with Osteoprotegerin/RANK/RANKL

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