Assessing performance of pathogenicity predictors using clinically relevant variant datasets
出版年份 2020 全文链接
标题
Assessing performance of pathogenicity predictors using clinically relevant variant datasets
作者
关键词
-
出版物
JOURNAL OF MEDICAL GENETICS
Volume -, Issue -, Pages jmedgenet-2020-107003
出版商
BMJ
发表日期
2020-08-26
DOI
10.1136/jmedgenet-2020-107003
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。- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- How good are pathogenicity predictors in detecting benign variants?
- (2019) Abhishek Niroula et al. PLoS Computational Biology
- Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
- (2019) Anja Thormann et al. Nature Communications
- Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders
- (2018) Caroline F Wright et al. GENETICS IN MEDICINE
- ClinPred: Prediction Tool to Identify Disease-Relevant Nonsynonymous Single-Nucleotide Variants
- (2018) Najmeh Alirezaie et al. AMERICAN JOURNAL OF HUMAN GENETICS
- UniProt: a worldwide hub of protein knowledge
- (2018) NUCLEIC ACIDS RESEARCH
- The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies
- (2017) Peter D. Stenson et al. HUMAN GENETICS
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants
- (2016) Nilah M. Ioannidis 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
- Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
- (2015) Caroline F Wright et al. LANCET
- A method for calculating probabilities of fitness consequences for point mutations across the human genome
- (2015) Brad Gulko et al. NATURE GENETICS
- Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
- (2015) C. Dong et al. HUMAN MOLECULAR GENETICS
- DANN: a deep learning approach for annotating the pathogenicity of genetic variants
- (2014) Daniel Quang et al. BIOINFORMATICS
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Overfitting in prediction models – Is it a problem only in high dimensions?
- (2013) Jyothi Subramanian et al. Contemporary Clinical Trials
- 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
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- VariBench: A Benchmark Database for Variations
- (2012) Preethy Sasidharan Nair 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
- SIFT web server: predicting effects of amino acid substitutions on proteins
- (2012) Ngak-Leng Sim et al. NUCLEIC ACIDS RESEARCH
- Performance of mutation pathogenicity prediction methods on missense variants
- (2011) Janita Thusberg et al. HUMAN MUTATION
- 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
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