Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
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October 2009 |
The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain
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June 2001 |
Characterization of the proteome, diseases and evolution of the human postsynaptic density
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December 2010 |
Bayesian ontology querying for accurate and noise-tolerant semantic searches
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July 2012 |
An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations
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September 2013 |
A Bivariate Genome-Wide Approach to Metabolic Syndrome: STAMPEED Consortium
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March 2011 |
Network properties of genes harboring inherited disease mutations
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March 2008 |
GWAS Central: a comprehensive resource for the comparison and interrogation of genome-wide association studies
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December 2013 |
Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation
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November 2009 |
Disease Ontology: a backbone for disease semantic integration
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November 2011 |
Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research
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January 2013 |
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci
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May 2010 |
Clinical Interpretation and Implications of Whole-Genome Sequencing
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March 2014 |
Next-generation sequencing demands next-generation phenotyping
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March 2012 |
Phen-Gen: combining phenotype and genotype to analyze rare disorders
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August 2014 |
Human symptoms–disease network
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June 2014 |
Improving ontologies by automatic reasoning and evaluation of logical definitions
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October 2011 |
A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing
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September 2014 |
Interactome Networks and Human Disease
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March 2011 |
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
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November 2014 |
Phenotype Ontologies and Cross-Species Analysis for Translational Research
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April 2014 |
PhenoDigm: analyzing curated annotations to associate animal models with human diseases
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January 2013 |
The modular nature of genetic diseases
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October 2006 |
Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
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January 2011 |
Genetic Susceptibility in IBD: Overlap Between Ulcerative Colitis and Crohnʼs Disease
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January 2013 |
Meta-analysis identifies six new susceptibility loci for atrial fibrillation
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April 2012 |
Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
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August 2012 |
Improved exome prioritization of disease genes through cross-species phenotype comparison
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October 2013 |
Genome-wide association analysis identifies 13 new risk loci for schizophrenia
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August 2013 |
Network Medicine — From Obesity to the “Diseasome”
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July 2007 |
Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users
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April 2012 |
Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families
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April 2014 |
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
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April 2011 |
Integrating phenotype ontologies across multiple species
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January 2010 |
Diagnostic Clinical Genome and Exome Sequencing
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June 2014 |
Common variants at 30 loci contribute to polygenic dyslipidemia
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December 2008 |
Next-generation sequencing for research and diagnostics in kidney disease
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June 2014 |
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
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April 2015 |
Unification of multi-species vertebrate anatomy ontologies for comparative biology in Uberon
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January 2014 |
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis
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June 2010 |
Emerging patterns of genetic overlap across autoimmune disorders
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January 2012 |
DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation
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October 2013 |
PREDICT: a method for inferring novel drug indications with application to personalized medicine
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January 2011 |
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
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May 2014 |
Using electronic health records to drive discovery in disease genomics
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May 2011 |
Patterns of coding variation in the complete exomes of three Neandertals
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April 2014 |
A Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease Risk
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September 2013 |
A modular framework for biomedical concept recognition
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September 2013 |
Specificity and Stability in Topology of Protein Networks
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May 2002 |
A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23
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October 2013 |
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
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August 2008 |
Clinical phenotype-based gene prioritization: an initial study using semantic similarity and the human phenotype ontology
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January 2014 |
Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database
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March 2012 |
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
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October 2012 |
Phenomics and the Interpretation of Personal Genomes
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September 2014 |
Next-generation sequencing of nine atrial fibrillation candidate genes identified novel de novo mutations in patients with extreme trait of atrial fibrillation
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November 2014 |
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
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December 2014 |
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen
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April 2014 |
eXtasy: variant prioritization by genomic data fusion
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September 2013 |
Disease Ontology 2015 update: an expanded and updated database of human diseases for linking biomedical knowledge through disease data
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October 2014 |
Progress and Promise of Genome-Wide Association Studies for Human Complex Trait Genetics
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November 2010 |
A treasure trove for lipoprotein biology
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February 2008 |
Detecting Drug Interactions From Adverse-Event Reports: Interaction Between Paroxetine and Pravastatin Increases Blood Glucose Levels
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May 2011 |
Cytoscape: the network visualization tool for GenomeSpace workflows
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January 2014 |
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
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November 2008 |
Identification of a novel de novo deletion in RAF1 associated with biventricular hypertrophy in Noonan syndrome
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April 2014 |
GWASdb: a database for human genetic variants identified by genome-wide association studies
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December 2011 |
Semantic Similarity in Biomedical Ontologies
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July 2009 |
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
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November 2014 |
Personalized sequencing and the future of medicine: discovery, diagnosis and defeat of disease
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November 2014 |
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
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December 2013 |
Genome-Wide Association Analysis of Blood Biomarkers in Chronic Obstructive Pulmonary Disease
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December 2012 |
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
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November 2013 |
A public resource facilitating clinical use of genomes
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July 2012 |
The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families
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October 1995 |
PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations
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March 2010 |
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
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September 2014 |
Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data
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November 2013 |
An ontology-based measure to compute semantic similarity in biomedicine
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February 2011 |
The ChEBI reference database and ontology for biologically relevant chemistry: enhancements for 2013
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November 2012 |