Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).
about
Deriving a mutation index of carcinogenicity using protein structure and protein interfacesLimitations of the human reference genome for personalized genomicsLocalization of SH3PXD2B in human eyes and detection of rare variants in patients with anterior segment diseases and glaucomaPredicting survival in head and neck squamous cell carcinoma from TP53 mutation.CoagVDb: a comprehensive database for coagulation factors and their associated SAPsAutomated inference of molecular mechanisms of disease from amino acid substitutions.Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employedFirst- and second-shell metal binding residues in human proteins are disproportionately associated with disease-related SNPs.Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.Genetic evidence and integration of various data sources for classifying uncertain variants into a single model.Cataloging coding sequence variations in human genome databasesInterpreting missense mutations in Human TRIM5alpha by computational methodsFour novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).A thorough assessment of benign genetic variability in GRN and MAPT.Targeted massively parallel sequencing provides comprehensive genetic diagnosis for patients with disorders of sex developmentA novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expressionComprehensive genetic testing for hereditary hearing loss using massively parallel sequencing.Characterization of a novel mutation in the CRYBB2 gene associated with autosomal dominant congenital posterior subcapsular cataract in a Chinese family.Structure-based predictions broadly link transcription factor mutations to gene expression changes in cancers.Single nucleotide variations: biological impact and theoretical interpretation.Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosaAnalysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer casesCalibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.Novel human CRYGD rare variant in a Brazilian family with congenital cataractMissense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy.The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumorsAssessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutationsResponse to DNA damage of CHEK2 missense mutations in familial breast cancer.In silico analysis of missense substitutions using sequence-alignment based methods.Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes.Heuristic methods for finding pathogenic variants in gene coding sequences.A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.An extended set of yeast-based functional assays accurately identifies human disease mutations.Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).The Clinical Significance of Unknown Sequence Variants in BRCA Genes.Analytical methods for inferring functional effects of single base pair substitutions in human cancers.Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genesIntegrating massively parallel sequencing into diagnostic workflows and managing the annotation and clinical interpretation challenge.Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.
P2860
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P2860
Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR).
description
2007 nî lūn-bûn
@nan
2007 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Interpreting missense variants ...... , MECP2, and tyrosinase (TYR).
@ast
Interpreting missense variants ...... , MECP2, and tyrosinase (TYR).
@en
type
label
Interpreting missense variants ...... , MECP2, and tyrosinase (TYR).
@ast
Interpreting missense variants ...... , MECP2, and tyrosinase (TYR).
@en
prefLabel
Interpreting missense variants ...... , MECP2, and tyrosinase (TYR).
@ast
Interpreting missense variants ...... , MECP2, and tyrosinase (TYR).
@en
P2093
P50
P356
P1433
P1476
Interpreting missense variants ...... 2, MECP2, and tyrosinase (TYR)
@en
P2093
Andrew J Grimm
Carole McBride
Jeffrey P Bond
Joan A Newell
Marc S Greenblatt
Peter J Miller
Philip A Chan
Sekhar Duraisamy
Tiina Raevaara
William S Oetting
P304
P356
10.1002/HUMU.20492
P577
2007-07-01T00:00:00Z