Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)
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Title
Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel)
Authors
Keywords
-
Journal
HUMAN MUTATION
Volume 37, Issue 1, Pages 28-35
Publisher
Wiley
Online
2015-10-07
DOI
10.1002/humu.22911
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Note: Only part of the references are listed.- DDIG-in: detecting disease-causing genetic variations due to frameshifting indels and nonsense mutations employing sequence and structural properties at nucleotide and protein levels
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- A general framework for estimating the relative pathogenicity of human genetic variants
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- (2014) Fiona Cunningham et al. NUCLEIC ACIDS RESEARCH
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- (2013) Hannah Carter et al. BMC GENOMICS
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- (2013) Kimon Frousios et al. GENOMICS
- The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine
- (2013) Peter D. Stenson et al. HUMAN GENETICS
- SIFT Indel: Predictions for the Functional Effects of Amino Acid Insertions/Deletions in Proteins
- (2013) Jing Hu et al. PLoS One
- DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indels
- (2013) Huiying Zhao et al. GENOME BIOLOGY
- Bioinformatics for personal genome interpretation
- (2012) E. Capriotti et al. BRIEFINGS IN BIOINFORMATICS
- Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
- (2012) Hashem A. Shihab et al. HUMAN MUTATION
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- The 1000 Genomes Project: data management and community access
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- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Predicting the effects of frameshifting indels
- (2012) Jing Hu et al. GENOME BIOLOGY
- 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
- CHASM and SNVBox: toolkit for detecting biologically important single nucleotide mutations in cancer
- (2011) Wing Chung Wong et al. BIOINFORMATICS
- Correlation of Somatic Mutation and Expression Identifies Genes Important in Human Glioblastoma Progression and Survival
- (2011) D. L. Masica et al. CANCER RESEARCH
- A new disease-specific machine learning approach for the prediction of cancer-causing missense variants
- (2011) Emidio Capriotti et al. GENOMICS
- Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed
- (2011) Stephanie Hicks et al. HUMAN MUTATION
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- Signatures of positive selection apparent in a small sample of human exomes
- (2010) J. A. Tennessen et al. GENOME RESEARCH
- Loss-of-function variants in the genomes of healthy humans
- (2010) D. G. MacArthur et al. HUMAN MOLECULAR GENETICS
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
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- (2009) Theo A. Knijnenburg et al. BIOINFORMATICS
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- Proportionally more deleterious genetic variation in European than in African populations
- (2008) Kirk E. Lohmueller et al. NATURE
- Genetic Variation in an Individual Human Exome
- (2008) Pauline C. Ng et al. PLoS Genetics
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