- Improved web interface appearance
- Web interface includes new beta features:
- Beta Genome Browser available to visualise variant context
- Summary (beta) tab to get a quick, visual description of filtering result
- Facets to get graphical descriptions of the data
- Upgraded backend. HGVA backend is now powered by OpenCGA 1.1.1
HGVA paper has been recently published. Please, cite: Lopez, J., Coll, J., Haimel, M., Kandasamy, S., Tarraga, J., Furio-Tari, P., Rendon, A, Dopazo, J & Medina, I. (2017). HGVA: the Human Genome Variation Archive. Nucleic Acids Research.
gnomAD genomes and gnomAD exomes population frequencies are now provided as part of the advanced annotation tab!
We are proud to announce HGVA project. HGVA aims to index most relevant human datasets to provide a unified high-performance NoSQL database. Variant dataset have been normalised and annotated using OpenCB CellBase. HGVA provides a complete RESTful API and client libraris and command line to access all data.
HGVA is developed and maintained by researchers at University of Cambridge and Genomics England.We are proud to announce HGVA project!