- A set of tools and practices improving the availability, quality, and comprehensibility of human variation information. It enables researchers, diagnostic laboratories, and clinics to share that information with ease, clarity, and without ambiguity.
- CHD7 Database
- An open access database that contains anonymised data on both published and unpublished CHD7 variations and phenotype.
- dbEST - Expressed Sequence Tag Database
A repository-developed metadata schema for EST data in Genbank.
- International dystrophic eb Patient Registry
- The international registry of dystrophic epidermolysis bullosa (DEB) patients and associated COL7A1 mutations.
- MVID Patient Registry
- The international registry of Microvillus Inclusion Disease (MVID) patients and associated MYO5B mutations.
- Public archive and analysis web portal for natural variation data in Caenorhabditis species.
- A comprehensive web database for linking human disease to natural variation data in Caenorhabditis elegans
- Genome Metadata
Descriptive data about single genomes within the Pathosystems Resource Integration Center.