Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
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Title
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Authors
Keywords
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Journal
Nature Communications
Volume 11, Issue 1, Pages -
Publisher
Springer Science and Business Media LLC
Online
2020-11-20
DOI
10.1038/s41467-020-19669-x
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Note: Only part of the references are listed.- The mutational constraint spectrum quantified from variation in 141,456 humans
- (2020) Konrad J. Karczewski et al. NATURE
- Getting to the Cores of Autism
- (2019) Lilia M. Iakoucheva et al. CELL
- The BioGRID interaction database: 2019 update
- (2018) Rose Oughtred et al. NUCLEIC ACIDS RESEARCH
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
- (2016) Tychele N. Turner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Protein function in precision medicine: deep understanding with machine learning
- (2016) Burkhard Rost et al. FEBS LETTERS
- Variation Interpretation Predictors: Principles, Types, Performance, and Choice
- (2016) Abhishek Niroula et al. HUMAN MUTATION
- 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
- The ORFeome Collaboration: a genome-scale human ORF-clone resource
- (2016) NATURE METHODS
- Genome-wide characteristics of de novo mutations in autism
- (2016) Ryan KC Yuen et al. npj Genomic Medicine
- From De Novo Mutations to Personalized Therapeutic Interventions in Autism
- (2015) William M. Brandler et al. Annual Review of Medicine
- Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders
- (2015) Nidhi Sahni et al. CELL
- 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
- Analysis of conditional heterozygous STXBP1 mutations in human neurons
- (2015) Christopher Patzke et al. JOURNAL OF CLINICAL INVESTIGATION
- Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder
- (2015) Ryota Hashimoto et al. JOURNAL OF HUMAN GENETICS
- Gene hunting in autism spectrum disorder: on the path to precision medicine
- (2015) Daniel H Geschwind et al. LANCET NEUROLOGY
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- Whole-genome sequencing of quartet families with autism spectrum disorder
- (2015) Ryan K C Yuen et al. NATURE MEDICINE
- Spatiotemporal 16p11.2 Protein Network Implicates Cortical Late Mid-Fetal Brain Development and KCTD13-Cul3-RhoA Pathway in Psychiatric Diseases
- (2015) Guan Ning Lin et al. NEURON
- Comparison of predicted and actual consequences of missense mutations
- (2015) Lisa A. Miosge et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
- (2015) C. Dong et al. HUMAN MOLECULAR GENETICS
- A Proteome-Scale Map of the Human Interactome Network
- (2014) Thomas Rolland et al. CELL
- Elucidating Common Structural Features of Human Pathogenic Variations Using Large-Scale Atomic-Resolution Protein Networks
- (2014) Jishnu Das et al. HUMAN MUTATION
- De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
- (2014) S E McCarthy et al. MOLECULAR PSYCHIATRY
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- De novo mutations in schizophrenia implicate synaptic networks
- (2014) Menachem Fromer et al. NATURE
- Large-scale discovery of novel genetic causes of developmental disorders
- (2014) T. W. Fitzgerald et al. NATURE
- Genome sequencing identifies major causes of severe intellectual disability
- (2014) Christian Gilissen 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
- Whole-genome sequence variation, population structure and demographic history of the Dutch population
- (2014) Laurent C Francioli et al. NATURE GENETICS
- MutationTaster2: mutation prediction for the deep-sequencing age
- (2014) Jana Marie Schwarz et al. NATURE METHODS
- UniProt: a hub for protein information
- (2014) NUCLEIC ACIDS RESEARCH
- Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes
- (2014) Michel Guipponi et al. PLoS One
- Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism
- (2014) Roser Corominas et al. Nature Communications
- Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
- (2013) Yong-hui Jiang et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identifying Mendelian disease genes with the Variant Effect Scoring Tool
- (2013) Hannah Carter et al. BMC GENOMICS
- Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network
- (2013) Suleyman Gulsuner et al. CELL
- Competition among Metal Ions for Protein Binding Sites: Determinants of Metal Ion Selectivity in Proteins
- (2013) Todor Dudev et al. CHEMICAL REVIEWS
- Edgotype: a fundamental link between genotype and phenotype
- (2013) Nidhi Sahni et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Variation Ontology for annotation of variation effects and mechanisms
- (2013) M. Vihinen GENOME RESEARCH
- Towards Precision Medicine: Advances in Computational Approaches for the Analysis of Human Variants
- (2013) Thomas A. Peterson et al. JOURNAL OF MOLECULAR BIOLOGY
- Status of Large-scale Analysis of Post-translational Modifications by Mass Spectrometry
- (2013) Jesper V. Olsen et al. MOLECULAR & CELLULAR PROTEOMICS
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- The UCSC Genome Browser database: 2014 update
- (2013) Donna Karolchik et al. NUCLEIC ACIDS RESEARCH
- Human Monogenic Disease Genes Have Frequently Functionally Redundant Paralogs
- (2013) Wei-Hua Chen et al. PLoS Computational Biology
- Biases in the Experimental Annotations of Protein Function and Their Effect on Our Understanding of Protein Function Space
- (2013) Alexandra M. Schnoes et al. PLoS Computational Biology
- Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
- (2012) Yali Xue et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
- (2012) Hashem A. Shihab et al. HUMAN MUTATION
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
- (2012) Anita Rauch et al. LANCET
- Patterns and rates of exonic de novo mutations in autism spectrum disorders
- (2012) Benjamin M. Neale et al. NATURE
- De novo mutations revealed by whole-exome sequencing are strongly associated with autism
- (2012) Stephan J. Sanders et al. NATURE
- Rate of de novo mutations and the importance of father’s age to disease risk
- (2012) Augustine Kong et al. NATURE
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
- (2012) Bin Xu et al. NATURE GENETICS
- Evolutionary diagnosis method for variants in personal exomes
- (2012) Sudhir Kumar et al. NATURE METHODS
- The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders
- (2012) Joseph D. Buxbaum et al. NEURON
- De Novo Gene Disruptions in Children on the Autistic Spectrum
- (2012) Ivan Iossifov et al. NEURON
- Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
- (2012) Joep de Ligt et al. NEW ENGLAND JOURNAL OF MEDICINE
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
- (2012) B. J. O'Roak et al. SCIENCE
- Drugs for Allosteric Sites on Receptors
- (2011) Cody J. Wenthur et al. Annual Review of Pharmacology and Toxicology
- Exome sequencing supports a de novo mutational paradigm for schizophrenia
- (2011) Bin Xu et al. NATURE GENETICS
- Increased exonic de novo mutation rate in individuals with schizophrenia
- (2011) Simon L Girard et al. NATURE GENETICS
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
- (2011) Gregory M. Cooper et al. NATURE REVIEWS GENETICS
- Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders
- (2011) Y. Sakai et al. Science Translational Medicine
- Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar
- (2010) Anaïs Mottaz et al. BIOINFORMATICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
- (2010) Eugene V. Davydov et al. PLoS Computational Biology
- Automated inference of molecular mechanisms of disease from amino acid substitutions
- (2009) B. Li et al. BIOINFORMATICS
- Detection of nonneutral substitution rates on mammalian phylogenies
- (2009) K. S. Pollard et al. GENOME RESEARCH
- Functional annotations improve the predictive score of human disease-related mutations in proteins
- (2009) Remo Calabrese et al. HUMAN MUTATION
- Edgetic perturbation models of human inherited disorders
- (2009) Quan Zhong et al. Molecular Systems Biology
- Annotation Error in Public Databases: Misannotation of Molecular Function in Enzyme Superfamilies
- (2009) Alexandra M. Schnoes et al. PLoS Computational Biology
- CHD8 Is an ATP-Dependent Chromatin Remodeling Factor That Regulates -Catenin Target Genes
- (2008) B. A. Thompson et al. MOLECULAR AND CELLULAR BIOLOGY
- Proportionally more deleterious genetic variation in European than in African populations
- (2008) Kirk E. Lohmueller et al. NATURE
- Role of Duplicate Genes in Robustness against Deleterious Human Mutations
- (2008) Tzu-Lin Hsiao et al. PLoS Genetics
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