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The Rat Genome Database (RGD) facilitates genomic and phenotypic data integration across multiple species for biomedical research

Mary L. Kaldunski, Jennifer R. Smith, G. Thomas Hayman, Kent C Brodie, Jeffrey L De Pons, Wendy Demos, Adam C Gibson, Morgan L. Hill, Matthew Hoffman, Logan Lamers, Stanley J. F. Laulederkind, Harika S Nalabolu, Ketaki Thorat, Jyothi Thota, Marek Tutaj, Marek Tutaj, Mahima Vedi, S. J. Wang, Stacy Zacher, Melinda R. Dwinell, Anne E. Kwitek

2021Mammalian Genome20 citationsDOIOpen Access PDF

Abstract

Model organism research is essential for discovering the mechanisms of human diseases by defining biologically meaningful gene to disease relationships. The Rat Genome Database (RGD, ( https://rgd.mcw.edu )) is a cross-species knowledgebase and the premier online resource for rat genetic and physiologic data. This rich resource is enhanced by the inclusion and integration of comparative data for human and mouse, as well as other human disease models including chinchilla, dog, bonobo, pig, 13-lined ground squirrel, green monkey, and naked mole-rat. Functional information has been added to records via the assignment of annotations based on sequence similarity to human, rat, and mouse genes. RGD has also imported well-supported cross-species data from external resources. To enable use of these data, RGD has developed a robust infrastructure of standardized ontologies, data formats, and disease- and species-centric portals, complemented with a suite of innovative tools for discovery and analysis. Using examples of single-gene and polygenic human diseases, we illustrate how data from multiple species can help to identify or confirm a gene as involved in a disease and to identify model organisms that can be studied to understand the pathophysiology of a gene or pathway. The ultimate aim of this report is to demonstrate the utility of RGD not only as the core resource for the rat research community but also as a source of bioinformatic tools to support a wider audience, empowering the search for appropriate models for human afflictions.

Topics & Concepts

BiologyComputational biologyHuman geneticsGenomeModel organismGeneHuman genomeHuman diseaseDiseaseDatabaseBioinformaticsGeneticsComputer scienceMedicinePathologyBioinformatics and Genomic NetworksBiomedical Text Mining and OntologiesMetabolomics and Mass Spectrometry Studies
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