标题
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants
作者
关键词
Machine learning algorithms, Animal performance, Machine learning, Computer-aided drug design, Genomic databases, Mammalian genomics, Forecasting, Primates
出版物
PLoS One
Volume 15, Issue 7, Pages e0236962
出版商
Public Library of Science (PLoS)
发表日期
2020-08-01
DOI
10.1371/journal.pone.0236962
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Predicting the clinical impact of human mutation with deep neural networks
- (2018) Laksshman Sundaram et al. NATURE GENETICS
- Paediatric genomics: diagnosing rare disease in children
- (2018) Caroline F. Wright et al. NATURE REVIEWS GENETICS
- ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants
- (2018) Najmeh Alirezaie et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A map of constrained coding regions in the human genome
- (2018) James M. Havrilla et al. NATURE GENETICS
- SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
- (2017) Adam Ameur et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Evolving health care through personal genomics
- (2017) Heidi L. Rehm NATURE REVIEWS GENETICS
- Integrated analysis of the large-scale sequencing project “Myocapture” to identify novel genes for myopathies
- (2017) J. Böhm et al. NEUROMUSCULAR DISORDERS
- REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
- (2016) Nilah M. Ioannidis et al. AMERICAN JOURNAL OF HUMAN 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
- A spectral approach integrating functional genomic annotations for coding and noncoding variants
- (2016) Iuliana Ionita-Laza et al. NATURE GENETICS
- M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
- (2016) Karthik A Jagadeesh et al. NATURE GENETICS
- DoCM: a database of curated mutations in cancer
- (2016) Benjamin J Ainscough et al. NATURE METHODS
- The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities
- (2015) Jessica X. Chong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- 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
- The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity
- (2015) Dominik G. Grimm et al. HUMAN MUTATION
- Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
- (2015) C. Dong et al. HUMAN MOLECULAR GENETICS
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Identifying Mendelian disease genes with the Variant Effect Scoring Tool
- (2013) Hannah Carter et al. BMC 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
- Disease-targeted sequencing: a cornerstone in the clinic
- (2013) Heidi L. Rehm NATURE REVIEWS GENETICS
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
- (2013) Yaping Yang et al. NEW ENGLAND JOURNAL OF MEDICINE
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis
- (2012) Mauno Vihinen BMC GENOMICS
- The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases
- (2012) William A. Gahl et al. GENETICS IN MEDICINE
- Cohort Profile: The ‘Children of the 90s’—the index offspring of the Avon Longitudinal Study of Parents and Children
- (2012) Andy Boyd et al. INTERNATIONAL JOURNAL OF EPIDEMIOLOGY
- The UK Adult Twin Registry (TwinsUK Resource)
- (2012) Alireza Moayyeri et al. Twin Research and Human Genetics
- 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
- Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
- (2011) Gregory M. Cooper et al. NATURE REVIEWS GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Identifying novel constrained elements by exploiting biased substitution patterns
- (2009) Manuel Garber et al. BIOINFORMATICS
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
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