Observ-OM

Observ-OM is founded on four basic concepts to represent any kind of observation: Targets, Features, Protocols (and their Applications), and Values. It is intended to lower the barrier for future data sharing and facilitate integrated search across panels and species. All models, formats, documentation, and software are available for free and open source (LGPLv3) at http://www.observ-om.org.

Extensions

VarioML
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.

Tools

MOLGENIS

A software generator to rapidly build web databases and a suite of web databases for genotype, phenotype, QTL and analysis pipelines.

Use Cases

CHD7 Database
An open access database that contains anonymised data on both published and unpublished CHD7 variations and phenotype.
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.
WormQTL
Public archive and analysis web portal for natural variation data in Caenorhabditis species.
WormQTL-HD
A comprehensive web database for linking human disease to natural variation data in Caenorhabditis elegans