Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
Authors
Keywords
-
Journal
TheScientificWorldJOURNAL
Volume 2019, Issue -, Pages 1-9
Publisher
Hindawi Limited
Online
2019-03-21
DOI
10.1155/2019/5198931
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
- (2018) Alejandro Moles-Fernández et al. Frontiers in Genetics
- Analysis of GJB6 (Сx30) and GJB3 (Сx31) genes in deaf patients with monoallelic mutations in GJB2 (Сx26) gene in the Sakha Republic (Yakutia)
- (2017) V. G. Pshennikova et al. RUSSIAN JOURNAL OF GENETICS
- dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
- (2016) Xiaoming Liu et al. HUMAN MUTATION
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic)
- (2016) Nikolay A. Barashkov et al. PLoS One
- PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels
- (2015) Yongwook Choi et al. BIOINFORMATICS
- 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
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
- (2015) C. Dong et al. HUMAN MOLECULAR GENETICS
- Bioinformatic Analysis of GJB2 Gene Missense Mutations
- (2014) Akin Yilmaz CELL BIOCHEMISTRY AND BIOPHYSICS
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- Variability in pathogenicity prediction programs: impact on clinical diagnostics
- (2014) Lauren C. Walters-Sen et al. Molecular Genetics & Genomic Medicine
- Predicting the functional consequences of cancer-associated amino acid substitutions
- (2013) Hashem A. Shihab et al. BIOINFORMATICS
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions
- (2012) Bryony A. Thompson et al. HUMAN MUTATION
- Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
- (2012) Hashem A. Shihab et al. HUMAN MUTATION
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
- (2011) Abel González-Pérez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Performance of mutation pathogenicity prediction methods on missense variants
- (2011) Janita Thusberg et al. HUMAN MUTATION
- Predicting the functional impact of protein mutations: application to cancer genomics
- (2011) Boris Reva et al. NUCLEIC ACIDS RESEARCH
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Automated inference of molecular mechanisms of disease from amino acid substitutions
- (2009) B. Li et al. BIOINFORMATICS
- Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods
- (2009) Janita Thusberg et al. HUMAN MUTATION
- Structure of the connexin 26 gap junction channel at 3.5 Å resolution
- (2009) Shoji Maeda et al. NATURE
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- The Human Gene Mutation Database: 2008 update
- (2009) Peter D Stenson et al. Genome Medicine
Find the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
SearchCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now