Pages tagged "beacon"

Progenetix - A cancer genomics reference resource around GA4GH standards

GA4GH 8th Plenary

Michael Baudis

The Progenetix oncogenomics resource provides sample-specific cancer genome profiling data and biomedical annotations as well as provenance data from cancer studies. Especially through currently 113322 curated genomic copy number number (CNV) profiles from 1600 individual studies representing over 500 cancer types (NCIt), Progenetix empowers aggregate and comparative analyses which vastly exceed individual studies or single diagnostic concepts.

2020-09-30: more ...

GA4GH Connect - Beacon v2 Structural Variants

GA4GH Connect 2020

Michael Baudis

Beacon v2 Structural Variants [slides]

2021-03-02: more ...

GA4GH Beacon v2 - Evolving Reference Standard for Genomic Data Exchange

GA4GH 8th Plenary

Gary Saunders, Jordi Rambla de Argila, Anthony Brookes, Juha Törnroos and Michael Baudis

For the ELIXIR Beacon project, GA4GH Discovery work stream and the international network of Beacon API developers

The Beacon driver project was one of the earliest initiatives of the Global Alliance for Genomics and Health with the Beacon v1.0 API as first approved GA4GH standard. Version 2 of the protocol is slated to provide fundamental changes, towards a Internet of Genomics foundational standard:

  • requests beyond genomic variants (“filters”)
  • payload responses, secured through open AAI
  • aligning w/ GA4GH standards (Phenopackets, VRS, DUO…) through SchemaBlocks {S}[B]
  • Working with international partners on deployment of advanced implementations

2020-09-30: more ...