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- Title
Rare disease research resources at the Rat Genome Database.
- Authors
Kaldunski, Mary L.; Smith, Jennifer R.; Brodie, Kent C.; De Pons, Jeffrey L.; Demos, Wendy M.; Gibson, Adam C.; Hayman, G. Thomas; Lamers, Logan; Laulederkind, Stanley J. F.; Thorat, Ketaki; Thota, Jyothi; Tutaj, Marek A.; Tutaj, Monika; Vedi, Mahima; Wang, Shur-Jen; Zacher, Stacy; Dwinell, Melinda R.; Kwitek, Anne E.
- Abstract
Rare diseases individually affect relatively few people, but as a group they impact considerable numbers of people. The Rat Genome Database (https://rgd.mcw.edu) is a knowledgebase that offers resources for rare disease research. This includes disease definitions, genes, quantitative trail loci (QTLs), genetic variants, annotations to published literature, links to external resources, and more. One important resource is identifying relevant cell lines and rat strains that serve as models for disease research. Diseases, genes, and strains have report pages with consolidated data, and links to analysis tools. Utilizing these globally accessible resources for rare disease research, potentiating discovery of mechanisms and new treatments, can point researchers toward solutions to alleviate the suffering of those afflicted with these diseases.
- Subjects
DATABASES; BIOLOGICAL models; GENETIC mutation; RATS; INFORMATION resources; GENOMICS; HEALTH; CELL lines; ONTOLOGIES (Information retrieval); RARE diseases; MEDICAL research
- Publication
Genetics, 2023, Vol 224, Issue 4, p1
- ISSN
0016-6731
- Publication type
Article
- DOI
10.1093/genetics/iyad078