Skip to Main Content

Resources

1. GT2RDF (Genetic Testing to RDF): a Resource Description Framework (RDF) resource integrates genetic test oriented information about genetic disease, gene, phenotype, genetic test, and drug from multiple sources including Genetic Testing Registry (GTR), Online Mendelian Inheritance in Man (OMIM), MedGen, Human Phenotype Ontology (HPO), ClinVar, National Drug File Reference Terminology (NDF-RT). http://biomedinformatics.is.umbc.edu:2020/

Citations:

 

2. GROnt (GeneReviews Ontology): a novel computational data resource semantically represents information presenting in the GeneReviews in the Web Ontology Language (OWL) with manually annotations of 300 randomly selected GeneReviews chapters regarding genetic condition, genetic test, clinical feature, treatment, and family risk. https://sourceforge.net/projects/gront/

Citations:

  • Zhu Q, Singh S, Semantic Representation of GeneReviews in OWL towards Diagnostic Decision Support in Genetic Medicine, submitted to Journal of Biomedical Semantics.
  • Singh S, Haerian K, Zhu Q, Ontology Development for Formal Representation of GeneReviews, accepted by the 2016 Bio-Ontologies SIG in conjunction with the Intelligent Systems for Molecular Biology (ISMB) 2016, Orlando, Florida, July 8 – July 12. (Podium presentation)
  •  Li P, Zhu Q, A survey of automated information retrieval for genetic disorder from GeneReviews, AMIA 2015 Annual Symposium. (Poster)

 

3. PGxNet (Pharmacogenomics Network): an integrative and standardized PGx network by integrating multiple well-known PGx data sources, including PharmGKB, KEGG. GWAS Catalog, PheWAS, DrugBank, and FDA Biomarkers with a standard biomedical vocabularies, the Unified Medical Language System (UMLS). PGxNet provides a user-friendly web interface to support key word search, browse and download PGx network. http://biomedinformatics.is.umbc.edu/PGxNET/

Citations:

  • Zhu Q, Qin W, Integrative Pharmacogenomics Network Development and Application, to be submitted to Journal of Biomedical Informatics.