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hCNV-X Milestones & Deliverables

This page is thought as an entry point for the various milestones and deliverables of the Beacon and beyond — Implementation-driven standards and protocols for CNV discovery and data exchange (short: hCNV-X) ELIXIR 2021-2023 inplementation study. The offical start of the project was in Summer 2021.

WP1 - hCNV community reference resources

M1.1 - Documentation of status (D1.1) for re-evaluation of project plan

D1.1 - Document with description of current status, roadblocks and envisioned solutions for all participating hCNV resources

D1.2 - hCNV resource hub as entry point for the different resource types

WP2 - hCNV Resources and Beacon

M2.1 - Documentation of Beacon implementation and hCNV Beacon roadmap

D2.1 - Demonstration of at least one public Beacon implementation with extended hCNV functionality and adoption of ELIXIR infrastructure

D2.2 - Integration of multiple (i.e. more than one, from different providers) hCNV Beacons in ELIXIR Beacon network, with functionality beyond current (v1.n) positional requests and rich data delivery (e.g. Phenopackets)

WP3 - Galaxy Community Intersection and Data Exchange

M3.1 - hCNV data from at least one of the participating resources and representing a substantial amount of its content, for use in Galaxy

M3.2 Milestone (M24): Report about achieved hCNV tool and data representation inside Galaxy platforms

D3.1 - Overview of hCNV specific tools and their representation - or lack of - in Galaxy workflows

D3.2 - Establishment and execution of hCNV-Galaxy tool & data exchange procedures

D3.3 - Documentation and revised definition of hCNV-Galaxy

WP4 - Workflows and Tools for hCNV Data Exchange Procedures

M4.1 - Report of implementation of improvements to community data exchange file formats and validation tools

D4.1 - Status report of current handling, limitations, needs of CNV specific file formats

D4.2 - Updated status report of current handling, limitations, needs of CNV specific file formats

WP5 - Training and dissemination

M5.1 - hCNV Code & Data community event

  • "Contentathon"- timepoint represents establishment of planning

D5.1 - Demonstration of ongoing/repeated representation of the project in ELIXIR and outside events, documented on the hCNV community website

D5.2 - Coordinate CNV training efforts between all ELIXIR- hCNV initiatives