CINECA aims to support the federated queries and analyses of distributed cohorts across continents. A vital component of this work is building a machine readable catalogue of cohorts and sites that support the efforts of Work Package 1 discovery and analysis APIs, which can be programmatically queried so that API calls can be made to relevant sites and results gathered and presented to the researcher.
Deliverable D1.1, Discovery Service Catalogue, supports the work of dependent work packages by implementing and demonstrating an open-source extended implementation of the Service Registry standard of the Global Alliance for Genomics and Health (GA4GH) for WP1’s discovery queries, the GA4GH Beacon queries. The Service Registry standard is now supported by the ELIXIR Beacon Network that CINECA WP1 uses to federate discovery queries across cohorts, and this demonstrator deliverable demonstrates the use of the service registry and its open source implementation.
https://doi.org/10.5281/zenodo.3908397
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Helena Rasche, Saskia Hiltemann
Rasche and Hiltemann have developed a Galaxy wrapper for Circos enabling the creation of publication-ready Circos plots using only a web browser. This version of Circos is available as an open-source installable application from the Galaxy ToolShed. Read the full publication here.
https://doi.org/10.1093/gigascience/giaa065
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Meet the CINECA team and see the people behind the scenes as part of our Connect with CINECA series. Emma is a bioinformatics graduate student in the Molecular Biology and Biochemistry department at Simon Fraser University, Canada, under the supervision of Dr. Fiona Brinkman.
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The CINECA consortium was formed in response to the EU call ‘Better Health and care, economic growth and sustainable health systems’ (H2020-SC1-BHC-2018-2020) with a proposal for an international collaboration with Canada and Africa for a federated cloud enabled infrastructure making population scale genomic and biomolecular data accessible across international borders. The CINECA consortium will create one of the largest cross-continental implementations of human genetic and phenotypic data federation and interoperability with a focus on common (complex) disease, one of the world’s most significant health burdens.
The CINECA Kick off meeting was held on January 24th-25th 2019 at the Wellcome Genome Campus Conference Centre, Hinxton UK. The key objective of the meeting was to bring together consortium members to facilitate discussion on the project’s goals and action plan. The report focuses on an overview of the Work Packages as presented to the consortium (focusing on deliverables due in the first reporting period), the cohorts included in the project, and the decisions made by the Executive Board for actions to implement in year 1 of the project.
https://doi.org/10.5281/zenodo.3908145
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This work has contributed towards establishing a description of the trust model and four different levels of data access concerning specific cohort’s data, identifying use cases for the development of federated analysis workflows and describing existing data access models to inspire subsequent WP4 deliverables related to the implementation of the federated analysis workflow.
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Meet the CINECA team and see the people behind the scenes as part of our Connect with CINECA series. Saskia is a bioinformatician and a PhD student working in metagenomics at the Erasmus Medical Centre in the Netherlands. Within the CINECA project she is co-Lead on Work Package 6 and a major contributor to Work Package 5.
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