Beacon and beyond — Implementation-driven standards and protocols for CNV discovery and data exchange

The initial 2019-2021 hCNV community implementation study employed a set of perceived needs to a) deliver first community standards and procedures; b) identify intersections with other ELIXIR communities and stakeholders in ELIXIR connected organizations, such as GA4GH; and c) to streamline priorities for relevant, achievable deliveries of hCNV community projects. This project for an hCNV implementation study focuses on those potential high-value targets for data access and delivery, using reference resources and community stakeholder engagement to directly implement and test hCNV resources aligned with ELIXIR ecosystems.
The main target here will be the empowerment of the Beacon protocol, to act as standard for federated hCNV discovery and data delivery, in conjunction with additional GA4GH derived standards.

Duration: 

1 June 2021 to 31 May 2023

Nodes involved: 

Platform/Community: 

People involved: 

Michael Baudis
Alexander Kanitz
Christophe Beroud
David Salgado
Timothee Cezard
Kirill Tsukanov
Jordi Rambla
Sergi Beltran
Tim Beck
Krzysztof Poterlowicz
Björn Grüning
Anthony Brookes