标题
MVP predicts the pathogenicity of missense variants by deep learning
作者
关键词
-
出版物
Nature Communications
Volume 12, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2021-01-21
DOI
10.1038/s41467-020-20847-0
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。- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
- (2020) F. Kyle Satterstrom et al. CELL
- Improved protein structure prediction using potentials from deep learning
- (2020) Andrew W. Senior et al. NATURE
- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Predicting functional effects of missense variants in voltage-gated sodium and calcium channels
- (2020) Henrike O. Heyne et al. Science Translational Medicine
- Unified inference of missense variant effects and gene constraints in the human genome
- (2020) Yi-Fei Huang PLoS Genetics
- Integrating regulatory DNA sequence and gene expression to predict genome-wide chromatin accessibility across cellular contexts
- (2019) Surag Nair et al. BIOINFORMATICS
- Predicting the clinical impact of human mutation with deep neural networks
- (2018) Laksshman Sundaram et al. NATURE GENETICS
- 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
- Architecture of the human interactome defines protein communities and disease networks
- (2017) Edward L. Huttlin et al. NATURE
- Estimating the selective effects of heterozygous protein-truncating variants from human exome data
- (2017) Christopher A Cassa et al. NATURE GENETICS
- Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples
- (2017) Jack A Kosmicki et al. NATURE GENETICS
- Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
- (2017) Sheng Chih Jin et al. NATURE GENETICS
- Accelerating Discovery of Functional Mutant Alleles in Cancer
- (2017) Matthew T. Chang et al. Cancer Discovery
- 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
- Enrichr: a comprehensive gene set enrichment analysis web server 2016 update
- (2016) Maxim V. Kuleshov et al. NUCLEIC ACIDS RESEARCH
- Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
- (2016) Frederick E. Dewey et al. SCIENCE
- Increased burden ofde novopredicted deleterious variants in complex congenital diaphragmatic hernia
- (2015) Lan Yu et al. HUMAN MOLECULAR GENETICS
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
- (2015) Stephan J. Sanders et al. NEURON
- ClinVar: public archive of interpretations of clinically relevant variants
- (2015) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
- (2015) J. Homsy et al. SCIENCE
- 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
- Nuclear expression and gain-of-function β-catenin mutation in glomangiopericytoma (sinonasal-type hemangiopericytoma): insight into pathogenesis and a diagnostic marker
- (2014) Jerzy Lasota et al. MODERN PATHOLOGY
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- Guidelines for investigating causality of sequence variants in human disease
- (2014) D. G. MacArthur et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- GPS-SUMO: a tool for the prediction of sumoylation sites and SUMO-interaction motifs
- (2014) Qi Zhao et al. NUCLEIC ACIDS RESEARCH
- Searching for missing heritability: Designing rare variant association studies
- (2014) O. Zuk et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Complex Genetics and the Etiology of Human Congenital Heart Disease
- (2014) B. D. Gelb et al. Cold Spring Harbor Perspectives in Medicine
- Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
- (2013) Michael O. Dorschner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Incorporating key position and amino acid residue features to identify general and species-specific Ubiquitin conjugation sites
- (2013) Xiang Chen et al. BIOINFORMATICS
- Identifying Mendelian disease genes with the Variant Effect Scoring Tool
- (2013) Hannah Carter et al. BMC GENOMICS
- Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
- (2013) Xin He et al. PLoS Genetics
- Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
- (2013) Slavé Petrovski et al. PLoS Genetics
- SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
- (2013) Brett S Abrahams et al. Molecular Autism
- VariBench: A Benchmark Database for Variations
- (2012) Preethy Sasidharan Nair et al. HUMAN MUTATION
- PrePPI: a structure-informed database of protein–protein interactions
- (2012) Qiangfeng Cliff Zhang et al. NUCLEIC ACIDS RESEARCH
- Predicting the Functional Effect of Amino Acid Substitutions and Indels
- (2012) Yongwook Choi et al. PLoS One
- Predicting the functional impact of protein mutations: application to cancer genomics
- (2011) Boris Reva et al. NUCLEIC ACIDS RESEARCH
- PHAST and RPHAST: phylogenetic analysis with space/time models
- (2010) M. J. Hubisz et al. BRIEFINGS IN BIOINFORMATICS
- Ongoing and future developments at the Universal Protein Resource
- (2010) NUCLEIC ACIDS RESEARCH
- GPS 2.1: enhanced prediction of kinase-specific phosphorylation sites with an algorithm of motif length selection
- (2010) Y. Xue et al. PROTEIN ENGINEERING DESIGN & SELECTION
- Characterising and Predicting Haploinsufficiency in the Human Genome
- (2010) Ni Huang et al. PLoS Genetics
- Identifying novel constrained elements by exploiting biased substitution patterns
- (2009) Manuel Garber et al. BIOINFORMATICS
- Identification of deleterious mutations within three human genomes
- (2009) S. Chun et al. GENOME RESEARCH
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- CORUM: the comprehensive resource of mammalian protein complexes—2009
- (2009) Andreas Ruepp et al. NUCLEIC ACIDS RESEARCH
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