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This report provides an overview of the development of the GDI Project Handbook. The Project Handbook follows the Open PM² best practices to provide the board members and the project participants with a clear definition of their roles and responsibilities, as well as the relevant processes and assets the project will use, to ensure contractual commitments in the Grant Agreement are delivered on time and within the scope and budget, and with the expected level of quality., GDI project receives funding from the European Union's Digital Europe Programme under grant agreement number 101081813

The aim of the 1+MG initiative with coordination and support from the Beyond 1 Million Genomes (B1MG) project is to recommend technologies, methodologies, and governance models for the 1+MG signatories (member states) that support cross-border data access to both genetic and phenotypic data. Prospective users are researchers and clinicians who facilitate the development of personalised medicine across the European Union. The 1+MG data infrastructure needs to be defined to ensure data managed within the federated network are compliant with the European and national legislation on data protection, security, and ELSI principles agreed in 1+MG. At the same time the aim is to maximise the Findability, Accessibility, Interoperability and Reusability of the 1+MG data, according to FAIR principles. In this deliverable a Proof of Concept (PoC) was built using existing standards, applications, and services to demonstrate cross border data access for two 1+MG use cases; rare disease and cancer. The intention is to create a technical infrastructure baseline and advancement for the next iteration of implementation data protection principles according to the GDPR, and agreed in discussion with B1MG WP2. The work is not complete, and will continue during 2022-2027 in the European Genomics Data Infrastructure project. As these data are envisioned to be located in distributed nodes hosted in different 1+MG signatory countries, these nodes must be interoperable with each other. Ideally, compatibility with other infrastructures or data spaces in Europe can be maximised as well, while considering the timelines to achieve the ambition of the 1+MG initiative, and hence the user stories described here do not necessarily correspond to the user stories required to conform with the 1+MG data governance. Global standards were chosen, where possible, within the PoC to maximise interoperability between the PoC, the 1+MG data infrastructure (as provided by organisations such as CSC in Finland), and with other European-level data infrastructures and data spaces. In 1+MG the applications or services utilised within the PoC to construct the infrastructure service functionalities and the data analysis workflows are strongly recommended to be open-source to enable security review, as well as have permissive software licence allowing redistribution and modifications. The Genome Phenome Analysis Platform, which was used to demonstrate the ‘processing’ functionality via visualisation for the rare disease use-case, does not yet comply with this overall recommendation, but the underlying infrastructure does not restrict the applications that can be used by the use of common open source standards to facilitate communication between components. Applications and services, where possible, are utilised by users in service production environments across organisations providing existing (research) data infrastructures or resources, again to maximise interoperability and leverage existing or previous developments. Additionally, all applications needed to provide the five functionalities of data reception, data discovery, access management, storage and interfaces, and processing (data analysis) are in active development within their respective communities. Input into the PoC was taken from both WP/WG2 and WP3 / WGs 3 & 4, as well as other related projects such as TEHDAS, CINECA, EJP-RD, as well as the European Health Data Space. The PoC demonstrates cross border data access for secondary use by a researcher for both use cases as demonstrated by a video uploaded to Youtube and a presentation to the 1+MG Special Group meeting in November 2022 (Link).

B1MG Project Milestone:M6.5 Project impact and monitoring indicators presented to OG - update

B1MG Milestone M6.4 Project impact and monitoring indicators presented to OG

The 1+MG Use Case WGs leads and experts have contributed to the direction of the B1MG WPs activities since the beginning of the project. Their contributions are fundamental to determining the resulting infrastructure needs as well as analysing the final solutions and how they support the various scenarios. This deliverable builds on previous informal and formal work, as well as contributions from other project and initiative activities: 1+MG use cases working group meetings Workshop to identify health care scenarios across 1+MG WGs Workshop to identify research scenarios across 1+MG WGs B1MG Operational group meetings (1+MG WGs & B1MG WP) Stakeholders forum outcomes 1+MG Group meetings This deliverable gives the first formal snapshot of the requirements of the 1+MG use case WGs and their current implementation state, which has been collected as part of the B1MG project directly. This inventory of met and unmet needs of the use case WGs will subsequently be used to drive infrastructure development and prioritise future 1+MG infrastructure actions. Successful implementation of the requirements will be evaluated by 1+MG WGs, ensuring that the final 1+MG infrastructure is fit for purpose. WP7 must still debate the implementation of the recently obtained EC recommendations to collect user requirements using particular software tracking techniques. The outcomes of those discussions will be incorporated into the future version of this deliverable.

Presentation -Introduction to the B1MG project and 1+MG initiative

B1MG First Stakeholder meeting - 16th October 2020 - agenda and slides

Presentation -Introduction to the B1MG project and 1+MG initiative

A roadmap is required to communicate the plans for development of the infrastructure to provide secure cross border data access to genetic and phenotypic data to interested stakeholders. The roadmap is a live document, with the initial deliverable being version1, which will evolve as the requirements of more use cases and updates to technology and standards are taken into account. The main aim of the roadmap presented here is to define the timelines to provide a proof of concept demonstrator of secure cross border data access, describe the technologies required todevelop such a demonstrator, and to detail the work that has gone into determining the roadmap and requirement for the proof of concept demonstrator. The roadmap also outlines how it is expected that the work carried out towards the initial proof of concept will support the developing roadmap for 2022 and beyond, as the proof of concept evolves from a demonstrator with synthetic data to a production system accessing real genetic and phenotypic data.