Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. - Wikidata - awgldk - TriplyDB

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

http://www.wikidata.org/entity/Q35053897

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Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants Multigene testing of moderate-risk genes: be mindful of the missense Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.Using exome data to identify malignant hyperthermia susceptibility mutations.Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity Ranking non-synonymous single nucleotide polymorphisms based on disease concepts Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Variation Interpretation Predictors: Principles, Types, Performance, and Choice.Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.Genetics of breast cancer: a topic in evolution.Microsatellite instability use in mismatch repair gene sequence variant classification Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals.Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genes Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.CDKN2A unclassified variants in familial malignant melanoma: combining functional and computational approaches for their assessment.Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations.Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants.PTENpred: A Designer Protein Impact Predictor for PTEN-related Disorders.Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization InterVar: Clinical Interpretation of Genetic Variants by the 2015 ACMG-AMP Guidelines Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.Gene variants of unknown clinical significance in Lynch syndrome. An introduction for clinicians.Comprehensive screening for mutations associated with colorectal cancer in unselected cases reveals penetrant and nonpenetrant mutations.Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC)Collaborating genomic, transcriptomic and microbiomic alterations lead to canine extreme intestinal polyposis

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P2860

Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.

http://www.wikidata.org/entity/Q35053897

description

2012 nî lūn-bûn

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2012 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2012 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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Calibration of multiple in sil ...... r gene missense substitutions.

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Calibration of multiple in sil ...... r gene missense substitutions.

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Calibration of multiple in sil ...... r gene missense substitutions.

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Calibration of multiple in sil ...... r gene missense substitutions.

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Calibration of multiple in sil ...... r gene missense substitutions.

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Calibration of multiple in sil ...... r gene missense substitutions.

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Calibration of multiple in sil ...... r gene missense substitutions.

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Biao Li

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Bingjian Feng

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Chloe Tessereau

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David E Goldgar

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Ivan A Adzhubey

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Johanna C Herkert

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Ken Boucher

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Marc S Greenblatt

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Maxime P Vallee

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Rolf H Sijmons

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P2860

Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

M-Coffee: combining multiple sequence alignment methods with T-Coffee

A method and server for predicting damaging missense mutations

Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).

Automated inference of molecular mechanisms of disease from amino acid substitutions.

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

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255-265

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10.1002/HUMU.22214

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1

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34

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Predrag Radivojac

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Bryony A Thompson

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2012-10-22T00:00:00Z

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22949387

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