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Welcome to HGVA space!

Welcome to the Human Genomic Variation Archive project. Here you will find plenty of information regarding what HGVA project is and how to use it. You can visit it at

http://bioinfodev.hpc.cam.ac.uk/web-apps/iva-v0.6/src/

Main Features

  • Most important high-quality variant studies normalized and integrated in just one server database
  • Rich variant annotation performed
  • Population frequencies calculated
  • Interactive web-based data mining tool based on IVA

Contact

  • Javier Lopez
  • Ignacio Medina


Latest news:

HGVA 1.1.0 released!
  • 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

Try now!

http://hgva.opencb.org





HGVA paper published!

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.

https://academic.oup.com/nar/article/3848351

gnomAD genomes and gnomAD exomes population frequencies are now provided as part of the advanced annotation tab!

http://gnomad.broadinstitute.org/


Welcome to HGVA!

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!



Current Studies

Assembly GRCh37

  • 1000 Genomes Phase3
  • ExAC
  • ESP6500
  • ...

Assembly GRCh38

...

Statistics

200M unique variants

1B variants


Developers

Source Code

Web based on IVA project at  https://github.com/opencb/iva/tree/app/hgva

Server based on OpenCGA at  https://github.com/opencb/opencga

Contributing

HGVA 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



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