OpenCGA implements a high-performance and scalable variant NoSQL database to store and index thousands of whole genome VCF files. Current
Many variant operations have been implemented such as variant aggregation, stats calculation, variant annotation, export, ...
You can store all you clinical data in our free data model solution in Catalog. You can define your clinical variables and annotate files, samples, individuals, families or cohort.
Clinical Data is indexed automatically to provide a real-time queries and aggregations analysis.
We have implemented some automatic clinical interpretation algorithms for Rare Diseases
Web based on IVA project at https://github.com/opencb/iva/tree/app/hgva
Server based on OpenCGA at https://github.com/opencb/opencga
IVA is a collaborative project that aims to integrate as many reference human studies as possible, you can contact us for feature request. If you want to contribute to the code you are more than welcome to contribute to IVA and OpenCGA
Ignacio Medina (HPCS, University of Cambridge)
Dr. Augusto Rendon (Genomics England)