Transcriptional regulatory networks of circulating immune cells in type 1 diabetes: A community knowledgebase.
PMID:35832893
Meiotic drive in house mice: mechanisms, consequences, and insights for human biology.
PMID:35829972
The heterogeneous pharmacological medical biochemical network PharMeBINet.
PMID:35821017
SperoPredictor: An Integrated Machine Learning and Molecular Docking-Based Drug Repurposing Framework With Use Case of COVID-19.
PMID:35784208
Deepening the knowledge of rare diseases dependent on angiogenesis through semantic similarity clustering and network analysis.
PMID:35731990
DisPhaseDB: An integrative database of diseases related variations in liquid-liquid phase separation proteins.
PMID:35685370
Improving medical term embeddings using UMLS Metathesaurus.
PMID:35488252
Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database.
PMID:35346288
The druggable schizophrenia genome: from repurposing opportunities to unexplored drug targets.
PMID:35338153
Fission stories: using PomBase to understand Schizosaccharomyces pombe biology.
PMID:35100366
The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK).
PMID:34906470
The Aliment to Bodily Condition knowledgebase (ABCkb): a database connecting plants and human health.
PMID:34838100
Network medicine for disease module identification and drug repurposing with the NeDRex platform.
PMID:34824199
PHI-base in 2022: a multi-species phenotype database for Pathogen-Host Interactions.
PMID:34788826
MoG+: a database of genomic variations across three mouse subspecies for biomedical research.
PMID:34782917
Cell type ontologies of the Human Cell Atlas.
PMID:34750578
The Rat Genome Database (RGD) facilitates genomic and phenotypic data integration across multiple species for biomedical research.
PMID:34741192
Mouse Genome Informatics (MGI): latest news from MGD and GXD.
PMID:34698891
Development of the International Classification of Diseases Ontology (ICDO) and its application for COVID-19 diagnostic data analysis.
PMID:34663204
An ontology network for Diabetes Mellitus in Mexico.
PMID:34625104
Pleiotropy data resource as a primer for investigating co-morbidities/multi-morbidities and their role in disease.
PMID:34524473
Catalyzing Knowledge-Driven Discovery in Environmental Health Sciences through a Community-Driven Harmonized Language.
PMID:34501574
Evaluating, Filtering and Clustering Genetic Disease Cohorts Based on Human Phenotype Ontology Data with Cohort Analyzer.
PMID:34442375
Linking common human diseases to their phenotypes; development of a resource for human phenomics.
PMID:34425897
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
PMID:34329581
Disease ontologies for knowledge graphs.
PMID:34289807
The Progenetix oncogenomic resource in 2021.
PMID:34272855
Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.
PMID:34220947
An overview of graph databases and their applications in the biomedical domain.
PMID:34003247
Integration of evidence across human and model organism studies: A meeting report.
PMID:33893716
Synergizing Mouse and Human Studies to Understand the Heterogeneity of Obesity.
PMID:33885739
KnetMiner: a comprehensive approach for supporting evidence-based gene discovery and complex trait analysis across species.
PMID:33750020
Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.
PMID:33606250
Public data sources to support systems toxicology applications.
PMID:33604492
The landscape of nutri-informatics: a review of current resources and challenges for integrative nutrition research.
PMID:33494105
An empirical meta-analysis of the life sciences linked open data on the web.
PMID:33479214
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.
PMID:33439542
The case for open science: rare diseases.
PMID:33426479
MicroPhenoDB Associates Metagenomic Data with Pathogenic Microbes, Microbial Core Genes, and Human Disease Phenotypes.
PMID:33418085
Bioinformatics Analysis of Key Genes and Pathways of Cervical Cancer.
PMID:33402836
Community Approaches for Integrating Environmental Exposures into Human Models of Disease.
PMID:33369481
A Rab escort protein regulates the MAPK pathway that controls filamentous growth in yeast.
PMID:33335117
KG-COVID-19: A Framework to Produce Customized Knowledge Graphs for COVID-19 Response.
PMID:33196056
An integrative knowledge graph for rare diseases, derived from the Genetic and Rare Diseases Information Center (GARD).
PMID:33183351
EpiGraphDB: a database and data mining platform for health data science.
PMID:33165574
Pharmacology-informed prediction of the risk posed to fish by mixtures of non-steroidal anti-inflammatory drugs (NSAIDs) in the environment.
PMID:33157376
PK-DB: pharmacokinetics database for individualized and stratified computational modeling.
PMID:33151297
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
PMID:33098347
The Dark Kinase Knowledgebase: an online compendium of knowledge and experimental results of understudied kinases.
PMID:33079988
Integration of anatomy ontology data with protein-protein interaction networks improves the candidate gene prediction accuracy for anatomical entities.
PMID:33028186
KG-COVID-19: a framework to produce customized knowledge graphs for COVID-19 response.
PMID:32839776
Interpretation of psychiatric genome-wide association studies with multispecies heterogeneous functional genomic data integration.
PMID:32791514
Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.
PMID:32439066
GlyGen data model and processing workflow.
PMID:32324859
Structured reviews for data and knowledge-driven research.
PMID:32283553
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer.
PMID:32246132
Wikidata as a knowledge graph for the life sciences.
PMID:32180547
Clinical Interpretation of Sequence Variants.
PMID:32176464
ncRPheno: a comprehensive database platform for identification and validation of disease related noncoding RNAs.
PMID:32122231
Exploring Integrative Analysis Using the BioMedical Evidence Graph.
PMID:32097025
Using the electronic health record for genomics research.
PMID:32073412
Open Science principles for accelerating trait-based science across the Tree of Life.
PMID:32066887
The Deep Genome Project.
PMID:32008577
GenoSurf: metadata driven semantic search system for integrated genomic datasets.
PMID:31820804
The Alliance of Genome Resources: Building a Modern Data Ecosystem for Model Organism Databases.
PMID:31796553
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
PMID:31783775
Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.
PMID:31735951
The assessment of efficient representation of drug features using deep learning for drug repositioning.
PMID:31726977
Gold-standard ontology-based anatomical annotation in the CRAFT Corpus.
PMID:31725864
The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
PMID:31701156
Enabling semantic queries across federated bioinformatics databases.
PMID:31697362
Mouse Phenome Database: a data repository and analysis suite for curated primary mouse phenotype data.
PMID:31696236
GWAS Central: a comprehensive resource for the discovery and comparison of genotype and phenotype data from genome-wide association studies.
PMID:31612961
VarSite: Disease variants and protein structure.
PMID:31606900
Alliance of Genome Resources Portal: unified model organism research platform.
PMID:31552413
Gephebase, a database of genotype-phenotype relationships for natural and domesticated variation in Eukaryotes.
PMID:31544935
Using MARRVEL v1.2 for Bioinformatics Analysis of Human Genes and Variant Pathogenicity.
PMID:31524990
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila.
PMID:31498321
A Survey of Gene Prioritization Tools for Mendelian and Complex Human Diseases.
PMID:31494632
Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.
PMID:31479590
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information.
PMID:31475990
Closing the 'phenotype gap' in precision medicine: improving what we measure to understand complex disease mechanisms.
PMID:31428846
A genetics-led approach defines the drug target landscape of 30 immune-related traits.
PMID:31253980
The Global academic research organization network: Data sharing to cure diseases and enable learning health systems.
PMID:31245596
Predicting instances of pathway ontology classes for pathway integration.
PMID:31196182
High-Diversity Mouse Populations for Complex Traits.
PMID:31133439
New models for human disease from the International Mouse Phenotyping Consortium.
PMID:31127358
Doc2Hpo: a web application for efficient and accurate HPO concept curation.
PMID:31106327
Intellectual disability and autism spectrum disorders 'on the fly': insights from Drosophila.
PMID:31088981
Ten quick tips for biocuration.
PMID:31048830
An analysis and metric of reusable data licensing practices for biomedical resources.
PMID:30917137
From Big Data to Precision Medicine.
PMID:30881956
DDOT: A Swiss Army Knife for Investigating Data-Driven Biological Ontologies.
PMID:30878356
Ontology based text mining of gene-phenotype associations: application to candidate gene prediction.
PMID:30809638
Data Lakes, Clouds, and Commons: A Review of Platforms for Analyzing and Sharing Genomic Data.
PMID:30691868
Xrare: a machine learning method jointly modeling phenotypes and genetic evidence for rare disease diagnosis.
PMID:30675030
The Importance of Biologic Knowledge and Gene Expression Context for Genomic Data Interpretation.
PMID:30619486
Computational aspects underlying genome to phenome analysis in plants.
PMID:30500991
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.
PMID:30477555
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
PMID:30476213
Gene's hubs in retinal diseases: A retinal disease network.
PMID:30417144
Mapping Molecular Datasets Back to the Brain Regions They are Extracted from: Remembering the Native Countries of Hypothalamic Expatriates and Refugees.
PMID:30334222
ClinGen advancing genomic data-sharing standards as a GA4GH driver project.
PMID:30311379
Classification, Ontology, and Precision Medicine.
PMID:30304648
Knowledge-based biomedical Data Science.
PMID:30294517
Uncovering new disease indications for G-protein coupled receptors and their endogenous ligands.
PMID:30285606
Meeting Patients' Right to the Correct Diagnosis: Ongoing International Initiatives on Undiagnosed Rare Diseases and Ethical and Social Issues.
PMID:30248891
matchbox: An open-source tool for patient matching via the Matchmaker Exchange.
PMID:30240502
Computational resources associating diseases with genotypes, phenotypes and exposures.
PMID:30102366
Creating a Structured AOP Knowledgebase via Ontology-Based Annotations.
PMID:30057931
Deep Phenotyping on Electronic Health Records Facilitates Genetic Diagnosis by Clinical Exomes.
PMID:29961570
GNOMICS: A one-stop shop for biomedical and genomic data.
PMID:29888054
Chemical-Induced Phenotypes at CTD Help Inform the Predisease State and Construct Adverse Outcome Pathways.
PMID:29846728
Plain-language medical vocabulary for precision diagnosis.
PMID:29632381
High-throughput mouse phenomics for characterizing mammalian gene function.
PMID:29626206
Unexplored therapeutic opportunities in the human genome.
PMID:29472638
Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis.
PMID:29340838
Integrating phenotype ontologies with PhenomeNET.
PMID:29258588
Mouse Phenome Database: an integrative database and analysis suite for curated empirical phenotype data from laboratory mice.
PMID:29136208
Towards precision medicine in Alzheimer's disease: deciphering genetic data to establish informative biomarkers.
PMID:28944295
Systematic integration of biomedical knowledge prioritizes drugs for repurposing.
PMID:28936969
Gene2Function: An Integrated Online Resource for Gene Function Discovery.
PMID:28663344
Knowledge Discovery in Biological Databases for Revealing Candidate Genes Linked to Complex Phenotypes.
PMID:28609292
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
PMID:28603714
Naming CRISPR alleles: endonuclease-mediated mutation nomenclature across species.
PMID:28589392
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
PMID:28502612
The anatomy of phenotype ontologies: principles, properties and applications.
PMID:28387809
The 24th annual Nucleic Acids Research database issue: a look back and upcoming changes.
PMID:28053160