The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
暂无分享,去创建一个
Peter N. Robinson | S. Lewis | H. Parkinson | S. Köhler | C. Mungall | T. Groza | W. Kibbe | A. Brookes | P. Robinson | M. Haendel | N. Washington | P. Schofield | L. Schriml | N. Vasilevsky | Tim Beck | T. Żemojtel | G. Baynam | A. Zankl | Dawid Moldenhauer | Drashtti Vasant | Sebastian Köhler | S. Lewis
[1] Alejandro Sifrim,et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data , 2015, The Lancet.
[2] Wei Zhang,et al. SCAN database: facilitating integrative analyses of cytosine modification and expression QTL , 2015, Database J. Biol. Databases Curation.
[3] Nigel Collier,et al. Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora , 2015, Database J. Biol. Databases Curation.
[4] François Schiettecatte,et al. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders , 2014, Nucleic Acids Res..
[5] Gang Fu,et al. Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data , 2014, Nucleic Acids Res..
[6] Michael P Snyder,et al. Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease. , 2014, Pharmacogenomics.
[7] Xuan Yuan,et al. Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders , 2014, Science Translational Medicine.
[8] E. Chuang,et al. Next-generation sequencing of nine atrial fibrillation candidate genes identified novel de novo mutations in patients with extreme trait of atrial fibrillation , 2014, Journal of Medical Genetics.
[9] S. Murray,et al. Precision phenotyping, panomics, and system-level bioinformatics to delineate complex biologies of atherosclerosis: rationale and design of the "Genetic Loci and the Burden of Atherosclerotic Lesions" study. , 2014, Journal of cardiovascular computed tomography.
[10] David B. Goldstein,et al. Phenomics and the Interpretation of Personal Genomes , 2014, Science Translational Medicine.
[11] Damian Smedley,et al. Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome , 2014, Science Translational Medicine.
[12] Cheng Wang,et al. A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing , 2014, PLoS Comput. Biol..
[13] P. Ng,et al. Phen-Gen: combining phenotype and genotype to analyze rare disorders , 2014, Nature Methods.
[14] M. Sana,et al. Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome , 2014, American journal of medical genetics. Part A.
[15] Rachel H. Giles,et al. Next-generation sequencing for research and diagnostics in kidney disease , 2014, Nature Reviews Nephrology.
[16] Peter N. Robinson,et al. Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology , 2014, BMC Bioinformatics.
[17] A. Barabasi,et al. Human symptoms–disease network , 2014, Nature Communications.
[18] Leslie G Biesecker,et al. Diagnostic clinical genome and exome sequencing. , 2014, The New England journal of medicine.
[19] Judith A. Blake,et al. Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon , 2014, Journal of Biomedical Semantics.
[20] Michael F. Siebauer,et al. Patterns of coding variation in the complete exomes of three Neandertals , 2014, Proceedings of the National Academy of Sciences.
[21] Fiona M. Watt,et al. Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen , 2014, Nature Communications.
[22] Brett J. Kennedy,et al. Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families. , 2014, American journal of human genetics.
[23] Caleb Webber,et al. Phenotype Ontologies and Cross-Species Analysis for Translational Research , 2014, PLoS genetics.
[24] Stephen J. Guter,et al. Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders , 2014, American journal of human genetics.
[25] Euan A Ashley,et al. Clinical interpretation and implications of whole-genome sequencing. , 2014, JAMA.
[26] Damian Smedley,et al. Improved exome prioritization of disease genes through cross-species phenotype comparison , 2014, Genome research.
[27] Peggy Hall,et al. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations , 2013, Nucleic Acids Res..
[28] A. Brookes,et al. GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies , 2013, European Journal of Human Genetics.
[29] Damian Smedley,et al. The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data , 2014, Nucleic Acids Res..
[30] Caroline F. Wright,et al. DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation , 2013, Nucleic Acids Res..
[31] Trey Ideker,et al. Cytoscape: the network visualization tool for GenomeSpace workflows , 2014, F1000Research.
[32] Melissa A. Basford,et al. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data , 2013, Nature Biotechnology.
[33] J. Ott,et al. A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23 , 2013, Nature Genetics.
[34] Bart De Moor,et al. eXtasy: variant prioritization by genomic data fusion , 2013, Nature Methods.
[35] Charles F. Bearden,et al. A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk , 2013, Cell.
[36] José Luís Oliveira,et al. A modular framework for biomedical concept recognition , 2013, BMC Bioinformatics.
[37] Nicole de Leeuw,et al. An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations. , 2013, European journal of medical genetics.
[38] Simon C. Potter,et al. Genome-wide Association Analysis Identifies 14 New Risk Loci for Schizophrenia , 2013, Nature Genetics.
[39] Damian Smedley,et al. PhenoDigm: analyzing curated annotations to associate animal models with human diseases , 2013, Database J. Biol. Databases Curation.
[40] M. Daly,et al. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis , 2013, The Lancet.
[41] Damian Smedley,et al. Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research , 2013, F1000Research.
[42] Z. Zhao,et al. Genetic Susceptibility in IBD: Overlap Between Ulcerative Colitis and Crohn's Disease , 2013, Inflammatory bowel diseases.
[43] Christoph Steinbeck,et al. The ChEBI reference database and ontology for biologically relevant chemistry: enhancements for 2013 , 2012, Nucleic Acids Res..
[44] Damian Smedley,et al. Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research. , 2013, F1000Research.
[45] T. Beaty,et al. Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. , 2012, American journal of respiratory and critical care medicine.
[46] Peter Saffrey,et al. Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units , 2012, Science Translational Medicine.
[47] Marcel H. Schulz,et al. Bayesian ontology querying for accurate and noise-tolerant semantic searches , 2012, Bioinform..
[48] Yuhua Shi,et al. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome , 2012, Nature Genetics.
[49] Euan A Ashley,et al. A public resource facilitating clinical use of genomes , 2012, Proceedings of the National Academy of Sciences.
[50] K. Lunetta,et al. Meta-analysis identifies six new susceptibility loci for atrial fibrillation , 2012, Nature Genetics.
[51] F. Dhombres,et al. Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users , 2012, Human mutation.
[52] Leslie G Biesecker,et al. Next‐generation sequencing demands next‐generation phenotyping , 2012, Human mutation.
[53] Chuong B. Do,et al. Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database , 2012, PLoS genetics.
[54] Pak Chung Sham,et al. GWASdb: a database for human genetic variants identified by genome-wide association studies , 2011, Nucleic Acids Res..
[55] Gang Feng,et al. Disease Ontology: a backbone for disease semantic integration , 2011, Nucleic Acids Res..
[56] L. Criswell,et al. Emerging patterns of genetic overlap across autoimmune disorders , 2012, Genome Medicine.
[57] Paul N. Schofield,et al. Improving ontologies by automatic reasoning and evaluation of logical definitions , 2011, BMC Bioinformatics.
[58] R. Altman,et al. Detecting Drug Interactions From Adverse‐Event Reports: Interaction Between Paroxetine and Pravastatin Increases Blood Glucose Levels , 2011, Clinical pharmacology and therapeutics.
[59] R. Sharan,et al. PREDICT: a method for inferring novel drug indications with application to personalized medicine , 2011, Molecular systems biology.
[60] I. Kohane. Using electronic health records to drive discovery in disease genomics , 2011, Nature Reviews Genetics.
[61] Carol A. Bocchini,et al. A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®) , 2011, Human mutation.
[62] A. Barabasi,et al. Interactome Networks and Human Disease , 2011, Cell.
[63] Yan V. Sun,et al. A Bivariate Genome-Wide Approach to Metabolic Syndrome , 2011, Diabetes.
[64] B. Stranger,et al. Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics , 2011, Genetics.
[65] David Sánchez,et al. An ontology-based measure to compute semantic similarity in biomedicine , 2011, J. Biomed. Informatics.
[66] Ryan W. Kim,et al. Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing , 2011, Science Translational Medicine.
[67] S. Grant,et al. Characterization of the proteome, diseases and evolution of the human postsynaptic density , 2011, Nature Neuroscience.
[68] Ayellet V. Segrè,et al. Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis , 2010, Nature Genetics.
[69] Jing Cui,et al. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci , 2010, Nature Genetics.
[70] Marylyn D. Ritchie,et al. PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene–disease associations , 2010, Bioinform..
[71] Cynthia L. Smith,et al. Integrating phenotype ontologies across multiple species , 2010, Genome Biology.
[72] Monte Westerfield,et al. Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation , 2009, PLoS biology.
[73] Marcel H. Schulz,et al. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. , 2009, American journal of human genetics.
[74] Phillip W. Lord,et al. Semantic Similarity in Biomedical Ontologies , 2009, PLoS Comput. Biol..
[75] Mark A. Musen,et al. The Open Biomedical Annotator , 2009, Summit on translational bioinformatics.
[76] R. Collins,et al. Common variants at 30 loci contribute to polygenic dyslipidemia , 2009, Nature Genetics.
[77] P. Robinson,et al. The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease. , 2008, American journal of human genetics.
[78] David Altshuler,et al. Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus , 2008, Nature Genetics.
[79] D. Vitkup,et al. Network properties of genes harboring inherited disease mutations , 2008, Proceedings of the National Academy of Sciences.
[80] P. Pajukanta,et al. A treasure trove for lipoprotein biology , 2008, Nature Genetics.
[81] A. Barabasi,et al. Network medicine--from obesity to the "diseasome". , 2007, The New England journal of medicine.
[82] M. Oti,et al. The modular nature of genetic diseases , 2006, Clinical genetics.
[83] K. Sneppen,et al. Specificity and Stability in Topology of Protein Networks , 2002, Science.
[84] D. Mann,et al. The −48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Aβ load in brain , 2001, Journal of medical genetics.
[85] M. Adams,et al. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families , 1995, Nature Genetics.
[86] D. G. Mackean,et al. Introduction to Biology , 1969 .