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Welcome to HGVA!

Human Genomic Variation Archive (HGVA) ...

Main Features

  • Most important high-quality variant studies normalised 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 (javier.lopez@genomicsengland.co.uk)
  • Ignacio Medina (im411@cam.ac.uk)

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/hgva

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 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/



Current Studies

Assembly GRCh37

  • 1000 Genomes Phase 3
  • Exome Aggregation Consortium (ExAC)
  • Exome Sequencing Project (ESP6500)
  • Genome of the Netherlands (GoNL)
  • UK10K project
  • Spanish Medical Genome Project

Assembly GRCh38

  • 1000 Genomes Phase 3

Cancer GRCh37

  • QIMR Berghofer Melanoma
  • Chronic Myeloid Leukemia - Russian Academy of Medical Sciences

Statistics

More than 300M 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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