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
Konrad J. Karczewski et al.
NATURE (2020)
Getting to the Cores of Autism
Lilia M. Iakoucheva et al.
CELL (2019)
The BioGRID interaction database: 2019 update
Rose Oughtred et al.
NUCLEIC ACIDS RESEARCH (2019)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Whole-exome sequencing and neurite outgrowth analysis in autism spectrum disorder
Ryota Hashimoto et al.
JOURNAL OF HUMAN GENETICS (2016)
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
Tychele N. Turner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Protein function in precision medicine: deep understanding with machine learning
Burkhard Rost et al.
FEBS LETTERS (2016)
Variation Interpretation Predictors: Principles, Types, Performance, and Choice
Abhishek Niroula et al.
HUMAN MUTATION (2016)
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
Xiaoming Liu et al.
HUMAN MUTATION (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
The ORFeome Collaboration: a genome-scale human ORF-clone resource
Stefan Wiemann et al.
NATURE METHODS (2016)
Genome-wide characteristics of de novo mutations in autism
Ryan K. C. Yuen et al.
NPJ GENOMIC MEDICINE (2016)
From De Novo Mutations to Personalized Therapeutic Interventions in Autism
William M. Brandler et al.
ANNUAL REVIEW OF MEDICINE, VOL 66 (2015)
Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders
Nidhi Sahni et al.
CELL (2015)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Analysis of conditional heterozygous STXBP1 mutations in human neurons
Christopher Patzke et al.
JOURNAL OF CLINICAL INVESTIGATION (2015)
Gene hunting in autism spectrum disorder: on the path to precision medicine
Daniel H. Geschwind et al.
LANCET NEUROLOGY (2015)
A global reference for human genetic variation
David M. Altshuler et al.
NATURE (2015)
Whole-genome sequencing of quartet families with autism spectrum disorder
Ryan K. C. Yuen et al.
NATURE MEDICINE (2015)
Spatiotemporal 16p11.2 Protein Network Implicates Cortical Late Mid-Fetal Brain Development and KCTD13-Cul3-RhoA Pathway in Psychiatric Diseases
Guan Ning Lin et al.
NEURON (2015)
Comparison of predicted and actual consequences of missense mutations
Lisa A. Miosge et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies
Chengliang Dong et al.
HUMAN MOLECULAR GENETICS (2015)
Large-scale discovery of novel genetic causes of developmental disorders
T. W. Fitzgerald et al.
NATURE (2015)
UniProt: a hub for protein information
Alex Bateman et al.
NUCLEIC ACIDS RESEARCH (2015)
Drugs for Allosteric Sites on Receptors
Cody J. Wenthur et al.
ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY, VOL 54 (2014)
A Proteome-Scale Map of the Human Interactome Network
Thomas Rolland et al.
CELL (2014)
Competition among Metal Ions for Protein Binding Sites: Determinants of Metal Ion Selectivity in Proteins
Todor Dudev et al.
CHEMICAL REVIEWS (2014)
Variation Ontology for annotation of variation effects and mechanisms
Mauno Vihinen
GENOME RESEARCH (2014)
Elucidating Common Structural Features of Human Pathogenic Variations Using Large-Scale Atomic-Resolution Protein Networks
Jishnu Das et al.
HUMAN MUTATION (2014)
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
S. E. McCarthy et al.
MOLECULAR PSYCHIATRY (2014)
Synaptic, transcriptional and chromatin genes disrupted in autism
Silvia De Rubeis et al.
NATURE (2014)
De novo mutations in schizophrenia implicate synaptic networks
Menachem Fromer et al.
NATURE (2014)
Genome sequencing identifies major causes of severe intellectual disability
Christian Gilissen et al.
NATURE (2014)
The contribution of de novo coding mutations to autism spectrum disorder
Ivan Iossifov et al.
NATURE (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Whole-genome sequence variation, population structure and demographic history of the Dutch population
Laurent C. Francioli et al.
NATURE GENETICS (2014)
MutationTaster2: mutation prediction for the deep-sequencing age
Jana Marie Schwarz et al.
NATURE METHODS (2014)
The UCSC Genome Browser database: 2014 update
Donna Karolchik et al.
NUCLEIC ACIDS RESEARCH (2014)
Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes
Michel Guipponi et al.
PLOS ONE (2014)
Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism
Roser Corominas et al.
NATURE COMMUNICATIONS (2014)
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
Yong-hui Jiang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Identifying Mendelian disease genes with the Variant Effect Scoring Tool
Hannah Carter et al.
BMC GENOMICS (2013)
Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network
Suleyman Gulsuner et al.
CELL (2013)
Edgotype: a fundamental link between genotype and phenotype
Nidhi Sahni et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2013)
Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models
Hashem A. Shihab et al.
HUMAN MUTATION (2013)
Towards Precision Medicine: Advances in Computational Approaches for the Analysis of Human Variants
Thomas A. Peterson et al.
JOURNAL OF MOLECULAR BIOLOGY (2013)
Status of Large-scale Analysis of Post-translational Modifications by Mass Spectrometry
Jesper V. Olsen et al.
MOLECULAR & CELLULAR PROTEOMICS (2013)
De novo mutations in epileptic encephalopathies
Andrew S. Allen et al.
NATURE (2013)
Human Monogenic Disease Genes Have Frequently Functionally Redundant Paralogs
Wei-Hua Chen et al.
PLOS COMPUTATIONAL BIOLOGY (2013)
Biases in the Experimental Annotations of Protein Function and Their Effect on Our Understanding of Protein Function Space
Alexandra M. Schnoes et al.
PLOS COMPUTATIONAL BIOLOGY (2013)
Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing
Yali Xue et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Anita Rauch et al.
LANCET (2012)
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale et al.
NATURE (2012)
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan J. Sanders et al.
NATURE (2012)
Rate of de novo mutations and the importance of father's age to disease risk
Augustine Kong et al.
NATURE (2012)
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O'Roak et al.
NATURE (2012)
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia
Bin Xu et al.
NATURE GENETICS (2012)
Evolutionary diagnosis method for variants in personal exomes
Sudhir Kumar et al.
NATURE METHODS (2012)
The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders
Joseph D. Buxbaum et al.
NEURON (2012)
De Novo Gene Disruptions in Children on the Autistic Spectrum
Ivan Iossifov et al.
NEURON (2012)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Brian J. O'Roak et al.
SCIENCE (2012)
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Bin Xu et al.
NATURE GENETICS (2011)
Increased exonic de novo mutation rate in individuals with schizophrenia
Simon L. Girard et al.
NATURE GENETICS (2011)
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
Brian J. O'Roak et al.
NATURE GENETICS (2011)
Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
Gregory M. Cooper et al.
NATURE REVIEWS GENETICS (2011)
Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders
Yasunari Sakai et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar
Anais Mottaz et al.
BIOINFORMATICS (2010)
Detection of nonneutral substitution rates on mammalian phylogenies
Katherine S. Pollard et al.
GENOME RESEARCH (2010)
A method and server for predicting damaging missense mutations
Ivan A. Adzhubei et al.
NATURE METHODS (2010)
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Kai Wang et al.
NUCLEIC ACIDS RESEARCH (2010)
Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP plus
Eugene V. Davydov et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
Automated inference of molecular mechanisms of disease from amino acid substitutions
Biao Li et al.
BIOINFORMATICS (2009)
Functional Annotations Improve the Predictive Score of Human Disease-Related Mutations in Proteins
Remo Calabrese et al.
HUMAN MUTATION (2009)
Edgetic perturbation models of human inherited disorders
Quan Zhong et al.
MOLECULAR SYSTEMS BIOLOGY (2009)
Annotation Error in Public Databases: Misannotation of Molecular Function in Enzyme Superfamilies
Alexandra M. Schnoes et al.
PLOS COMPUTATIONAL BIOLOGY (2009)
CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes
Brandi A. Thompson et al.
MOLECULAR AND CELLULAR BIOLOGY (2008)
Proportionally more deleterious genetic variation in European than in African populations
Kirk E. Lohmueller et al.
NATURE (2008)
Role of duplicate genes in robustness against deleterious human mutations
Tzu-Lin Hsiao et al.
PLOS GENETICS (2008)
Spectrum of disease-causing mutations in protein secondary structures
Sofia Khan et al.
BMC STRUCTURAL BIOLOGY (2007)
Gene splicing and mutagenesis by PCR-driven overlap extension
Karin L. Heckman et al.
NATURE PROTOCOLS (2007)
Functional anthology of intrinsic disorder. 1. Biological processes and functions of proteins with long disordered regions
Hongbo Xie et al.
JOURNAL OF PROTEOME RESEARCH (2007)
Cd-hit: a fast program for clustering and comparing large sets of protein or nucleotide sequences
Weizhong Li et al.
BIOINFORMATICS (2006)
Learning from positive and unlabeled examples
F Denis et al.
THEORETICAL COMPUTER SCIENCE (2005)
Accounting for human polymorphisms predicted to affect protein function
PC Ng et al.
GENOME RESEARCH (2002)
Allosteric binding sites on cell-surface receptors: Novel targets for drug discovery
A Christopoulos
NATURE REVIEWS DRUG DISCOVERY (2002)
Predicting deleterious amino acid substitutions
PC Ng et al.
GENOME RESEARCH (2001)
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: Structure-based assessment of amino acid variation
D Chasman et al.
JOURNAL OF MOLECULAR BIOLOGY (2001)
Prediction of deleterious human alleles
S Sunyaev et al.
HUMAN MOLECULAR GENETICS (2001)
SNPs, protein structure, and disease
Z Wang et al.
HUMAN MUTATION (2001)
dbSNP: the NCBI database of genetic variation
ST Sherry et al.
NUCLEIC ACIDS RESEARCH (2001)