Sentence examples for mutation prediction programs from inspiring English sources

Clearly, complete consensus between three somatic mutation prediction programs provides a very high-confidence set of predicted mutations.

The correlated mutation prediction programs used in this study were XDET [38], [42] and CAPS [43] and the intra-residue contact prediction programs implemented were ConSEQ [39] and CORNET [40], [41].

This novel non-conservative substitution, p.R689W, is located at a highly conservative domain (FH2) in the INF2 protein and scored as highly likely pathogenic, using mutation prediction programs.

Similarly, Lower et al. used a scheme based on sequencing of control samples in duplicate, and applied a random-forest classifier based on the output of three somatic mutation prediction programs (including one of those used here, SomaticSniper) to develop a false-discovery rate (FDR) measurement that they showed can be used to enrich for true somatic variants [ 37].

This is expected to occur increasingly, now that BRCA1/2 mutation-prediction programs such as BOADICEA include pathology as a component [ 16], and given recent evidence supporting implementation of the National Comprehensive Cancer Network (NCCN) guidelines that recommend testing of all TN breast cancer patients aged 60 years or younger [ 45].

Thus caution must be used in assessing the pathogenicity of a missense or silent mutation with prediction programs.

Rare missense variants were considered to be contributory if predicted to be pathogenic, disease causing or damaging by in silico prediction programs (MutationTaster, PolyPhen-2, SIFT).

The four other individuals were found to have rare missense VUS predicted to be damaging, disease-causing, or deleterious by at least one of the in silico prediction programs, MutationTaster, PolyPhen-2 and SIFT.

In silico analysis using the prediction programs Mutation Taster (http://www.mutationtaster.org) and PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/) classified variant I as a benign polymorphism (rs1131188481).

In this study we have analyzed all the pathogenic missense mutations reported in the HNPCC mutation database, with three ESE prediction programs (ESEfinder, Rescue ESE and PESX), then with two splice site prediction programs (NNSPLICE and SpliceSite finder) and a gene prediction program (GENSCAN).

The p.Gly375Asp mutation is predicted to be damaging by prediction programs (Polyphen‐2: probably damaging [1], SIFT: damaging [0], MutationTaster: disease causing [1]).