Beyond 1M Genomes

Risultati finali

Phenotypic and clinical metadata framework - 1v0

A dynamic and iterative roadmap as well as publication of an iterative document towards an established framework that can be used by the relevant 1MG working groups to agree on a minimal phenotypic and clinical dataset to run chosen Use Cases

The B1MG data analysis challenge

Publication of the outcome of the B1MG data analysis challenge.

Project Handbook 1v0

Initial version of the Project Handbook following Open PM2 best practices

Report of Stakeholders Forum 2021 including recommendations to the 1+MG Working Groups

Report of Stakeholders Forum 2021 including recommendations to the 1MG Working Groups Alignment with stakeholders engagement activities

Report on data access and governance framework

The report contains a set of specifications and guidelines needed to allow efficient cross-border access and use of genomes for research in compliance with legal and ethical requirements.

B1MG maturity level model and country-specific alignment within the model.

Report on the maturity level model and profiling of selected national healthcare systems against the model including the main conclusions of the reviews regarding adoption of genomic data, the alignment with the model and the national goals and commitments to achieve within the maturity level model.

Catalogue of met and unmet use cases WGs requirements Final
Best practices for Next Generation Sequencing

Description of a best-in-class procedure to carry out an NGS analysis in a clinical setting, including sample quality, sample preparation, sequencing and data analysis and clinical interpretation.

Generation of a stakeholder portal within the project webpage containing the information resulting from the activities of the SCG

Functional description of the stakeholder portal available from the project website

Report of ELSI Stakeholder Meetings

Summary of the achievements of the meetings with the various Stakeholders.

Citizens engagement and public trust in genomic data sharing

Citizens engagement and public trust in genomic data sharing.Alignment with stakeholders engagement activities and reviewers’ recommendations

Project Handbook 2v0

Update of the Project Handbook including update on the KPIs

Policy document for a genome data sharing initiative

The policy document contains minimal standards for a number of relevant subjects such as the inclusion of special groups of data subjects, feedback provision to data subjects and incidental findings, and consent forms.

Roadmap and guidance tool for countries.

“Towards embedding genomic and health data shared by the 1+MG initiative into healthcare systems for effective implementation of Personalised Medicine”. Roadmap describes the overall strategy and main steps for the adoption of genomic data in healthcare systems, and will be disseminated as an overall report and policy briefs in several domains with potentially different target audiences: infrastructure, capacity building, ELSI, funding models and healthcare policy development.

Phenotypic and clinical metadata framework - 3v0

A dynamic and iterative roadmap as well as publication of an iterative document towards an established framework that can be used by the relevant 1+MG working groups to agree on a minimal phenotypic and clinical dataset to run chosen Use Cases.

Document describing the operational organisation and processes for the SCG

Analysis of requirements and the operational organisation and process to implement the SCG

Communication Strategy

Consortium communication strategy including assets tools guidelines and targets

Documented best practices in sharing and linking phenotypic and genetic data - 1v0

Publication of an iterative document on available best practices in sharing and linking phenotypic and genetic data

Secure data access demonstrator.

Coordinating a demonstrator across existing initiatives projects for cross-border data access.

Catalogue of met and unmet use cases WGs requirements 2v0
Report on legal set-up including DPIA

The report explores the legal situation of data sharing for a pan-European genome initiative.

Secure cross-border data access roadmap - 2v0

A snapshot (v.2) of a dynamic and evolving roadmap document for secure cross-border data access.

Documented best practices in sharing and linking phenotypic and genetic data - 2v0

Publication of an iterative document on available best practices in sharing and linking phenotypic and genetic data.

Report on sustainability design and funding routes for the delivery of PM cross-border

Final report on routes to sustainability building on the work done by 1+MG and other initiatives.

Guiding principles and best practices examples for mirror groups

Recommendations for mirror groups.

Policy briefs - 1v0

First policy briefs deliverable

Report of Stakeholders Forum 2022 including recommendations to the 1+MG Working Groups

Report of Stakeholders Forum 2022 including recommendations to the 1+MG Working Groups. Yearly report.

Stakeholders trust in genomic data sharing landscape analysis

Stakeholders trust in genomic data sharing landscape analysisAlignment with stakeholders engagement activities and reviewers recommendations

Phenotypic and clinical metadata framework - 2v0

B1MG recommendation on citizens engagement and public trust in genomic data sharing

B1MG recommendation on citizens engagement and public trust in genomic data sharing.Alignment with stakeholders engagement activities and reviewers’ recommendations

Project Handbook - 3v0 - final version and lessons learnt

Final version of the Project Handbook, KPIs and lesson learnt.

Catalogue of met and unmet use cases WGs requirements 1v0
Quality metrics for sequencing

Establishment of a salient set of metrics to assess the quality of an NGS sequencing analysis

Economic models methodology and case studies.

Report on harmonisation of economic evaluation models for application of genomic medicine in cancer, rare diseases, and for prevention of complex diseases.

Analysis and assessment of mirror groups

Based on data collected from mirror groups

Secure cross-border data access roadmap - 1v0

A snapshot v1 of a dynamic roadmap document for secure crossborder data access

Pubblicazioni

B1MG M3.3 List of best practices in sharing and linking phenotypic and genetic data

Autori: Belien, Jeroen
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5770499

The Genome of Europe: A Europe wide Reference D atabase of Genomes

Autori: Uitterlinden, André; van Rooij, Jeroen; Vaht, Mariliis
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8055609

Beyond 1 Million Genomes (B1MG) D6.10 Report on sustainability design and funding routes for the delivery of PM cross-border

Autori: Doménech, Elena; Ponce Polo, Ángela; Arenas Marquez, Juan
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10058284

Beyond 1 Million Genomes (B1MG) D2.4 Report on data access and governance framework

Autori: Becker, Regina; Thorogood, Adrian; Tzortzatou, Olga; Matei, Mihaela; Rebers, Susanne
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8411102

B1MG D7.1 - Catalogue of met and unmet use case WGs requirements 1v0Creators

Autori: Kerry, Giselle; Scollen, Serena; Arenas Marquez, Juan
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.7433376

Draft version for stakeholder interaction and discussion - B1MG Policy Document - B1MG WP2 - Recommendation of minimal standards for feedback provision of results of research studies conducted with data provided through 1+MG to data subjects

Autori: Rebers, Susanne
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6362164

B1MG D1.6 Citizen engagement and public trust in genomic data sharing

Autori: Van, El, Carla; Vermeulen, Eric; Bale, Mark; Beusink, Miriam; Bitsch, Lise; Coutts, Nikki; Van Delden, Johannes; Franková, Vera; Gross, Edith; Van Hoof, Wannes; Horgan, Denis; Machado, Helena; Mayrhofer, Michaela Th.; Merchant, Arshiya; Patch, Christine; Peterlin, Boris; Pittens, Carla; Prainsack, Barbara; Samuel. Gabby; Kok, Ruben; Scollen, Serena
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.7913029

1+MG Glossary - version for 1+MG Framework

Autori: Thorogood, Adrian; Becker, Regina
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8279620

Draft version for stakeholder interaction and discussion - Scope of the 1+MG Initiative v1.1

Autori: Becker, Regina; Thorogood, Adrian; B1MG WP2; 1+MG WG2
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6363119

Beyond 1 Million Genomes (B1MG) D6.5 Project Handbook - 3v0 - final version and lessons learnt

Autori: Coutts, Nikki; Arenas Marquez, Juan
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10047038

Draft version for stakeholder interaction and discussion - 1+MG Incidental Findings Policy - Background and References

Autori: Rebers, Susanne; Thorogood, Adrian; B1MG WP2; 1+MG WG2
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6362131

B1MG - D5.1 B1MG maturity level model and country-specific alignment within the model

Autori: Costa, Alexandra; Cardoso, Maria Luís; Konopko, Melissa; Pérez Sitjà, Xènia; Lopes, Maria de Fátima; Merchant, Arshiya; Santos, Osvaldo; Bourbon, Mafalda; Thorogood, Adrian; Becker, Regina; Beliën, Jeroen; Gut, Ivo; Nyrönen, Tommi; Custers, Ilse; Scollen, Serena; Vicente, Astrid; DELPHI panel of experts
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6587561

Citizen Engagement & Public Trust in Genomic Data Sharing: Recommendations for trustworthiness from an experts workshop organised by B1MG

Autori: Coutts, Nikki; van El, Carla; Horgan, Denis; Kok, Ruben; Merchant, Arshiya; Scollen, Serena; Vermeulen, Eric
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8055495

Beyond 1 Million Genomes (B1MG) D7.3 Catalogue of met and unmet use case WGs requirements - Final

Autori: Kerry, Giselle; Arenas Marquez, Juan; Tartaglia, Marco; Tonon, Giovanni; Metspalu, Andres; Kivinen, Katja; Scherer, Andreas
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10047184

Draft version for stakeholder interaction and discussion - B1MG D2.3 Report on legal set-up including DPIA

Autori: Bovenberg, Jasper; Becker, Regina; Thorogood, Adrian
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6365738

B1MG M6.1 Project Mobilised. All B1MG Governing Boards in place

Autori: Arenas Marquez, Juan; Coutts, Nikki
Pubblicato in: 2020
Editore: Zenodo
DOI: 10.5281/zenodo.4291925

B1MG M5.2 Maturity level model defined_ standards, indicators and review

Autori: Lopes, Fátima; Vicente, Astrid
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5770487

B1MG First Stakeholder meeting 16/10/2020 - agenda and slides

Autori: Horgan, Denis; Kok, Ruben; Scollen, Serena; Arenas Marquez, Juan
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6400907

B1MG D1.3 Report of Stakeholders Forum 2021 including recommendations to the 1+MG Working Groups

Autori: Chatterjee, Anamika; Kok, Ruben
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.7590713

Beyond 1 Million Genomes (B1MG) D7.2 Catalogue of met and unmet use case WGs requirements - 2v0

Autori: Kerry, Giselle; Arenas Marquez, Juan; Tartaglia, Marco; Tonon, Giovanni; Metspalu, Andres; Scherer, Andreas
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10047142

B1MG M6.2 Mirror groups survey

Autori: Rodriguez, Esther; Lopez Parra, Pepa
Pubblicato in: 2020
Editore: Zenodo
DOI: 10.5281/zenodo.4291930

1+MG / B1MG – Data Protection by Design and Default presentation

Autori: Becker, Regina
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8399563

CINECA GDPR and FAIR compliant Diagnostic Services D5.3

Autori: Johansson, Lennart; Been, Gerieke; Michie, Alex; Binsl, Thomas
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.7925804

B1MG D3.8 Documented best practices in sharing and linking phenotypic and genetic data —2v0

Autori: Pinto, Catia; Belien, Jeroen; Ligtvoet, Maarten; Urbini, Milena; Volkert, Pim; Gu, Wei; Tebaldi, Michela; Patocs, Attila; van der Velde, K.Joeri; Swertz, Morris; van Gijn, Marielle,.E; Korbel, Jan O.; Padella, Antonella; Valencia, Alfonso; Muñoz, Adolfo; Pedrera, Miguel; Serrano, Pablo; Parra, Carlos; Beltran, Sergi; Groot, Harmke; Soares, Flávio; Lourenço, Inês; Kovač, Jernej; Hermansson, Ul
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8383721

Beyond 1 million genomes (B1MG) D5.2 Roadmap and guidance tool for countries

Autori: Lopes, Fátima; Costa, Alexandra; Cardoso, Maria Luís; Konopko, Melissa; Merchant, Arshiya; Tseng, Yun-Yun; Scollen, Serena; Vicente, Astrid
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8403566

Draft version for stakeholder interaction and discussion - 1+MG Recommendations for a Data Access Governance Framework (Research Purposes)

Autori: Thorogood, Adrian; Becker, Regina; 1+MG WG2; B1MG WP2
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6363157

B1MG D3.2 Best practices for Next Generation Sequencing

Autori: Gut, Ivo; Aguileta, Gabriela; Cuppen, Edwin; Wirta, Valtteri; Hovig, Eivind; Matthijs, Gert
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.7912922

B1MG D3.7 - Documented best practices in sharing and linking phenotypic and genetic data - 2v0 (revised)

Autori: Belien, Jeroen; Pinto, Catia; Ligtvoet, Maarten; Urbini, Milena; Volkert, Pim; Gu, Wei; Tebaldi, Michela; Patocs, Attila; van der Velde, K.Joeri; van Gijn, Marielle E; Korbel, Jan O; Padella, Antonella; Valencia, Alfonso; Pedrera, Miguel; Serrano, Pablo; Parra, Carlos; Beltran, Sergi; Muñoz, Adolfo
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5780228

The data life cycle in 1+MG (v1.0) - version for 1+MG Framework

Autori: Becker, Regina; Thorogood, Adrian; Rebers, Susanne
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8279697

B1MG D3.7 - Documented best practices in sharing and linking phenotypic and genetic data - 1v0

Autori: Belien, Jeroen; Pinto, Catia; Ligtvoet, Maarten; Urbini, Milena; Volkert, Pim; Gu, Wei; Tebaldi, Michela; Patocs, Attila; van der Velde, K.Joeri; van Gijn, Marielle E; Korbel, Jan O; Padella, Antonella; Valencia, Alfonso; Pedrera, Miguel; Serrano, Pablo; Parra, Carlos; Beltran, Sergi
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5018520

B1MG D1.1 Document describing the operational organisation and processes for the Stakeholder Coordination Group (SCG)

Autori: Horgan, Denis; Kok, Ruben; Bernini, Chiara; Andreu, Toni; Oldoni, Emanuela; van Rijswijk, Merlijn
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5786736

B1MG M2.3 Draft report on legal set-up including DPIA

Autori: Bovenberg, Jasper; Becker, Regina; Thorogood, Adrian; Tzortzatou, Olga
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6376292

Beyond 1 Million Genomes (B1MG) M4.1 - Technology and ELSI compliance check (document)

Autori: Spalding, Dylan
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8427449

B1MG M3.2 Outcome of consultation on sequencing practices. A report on the status of procedures for WGS and WES across Europe will be prepared

Autori: Gut, Ivo; Estelles, Lucia
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5770501

1+MG / B1MG Maturity Level Model (MLM) User Guide

Autori: Lopes, Fátima; Costa, Alexandra; Cardoso, Maria Luís; Vicente, Astrid
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10066995

B1MG D2.1 Report of ELSI Stakeholder Meetings

Autori: Panagiotopoulou, Maria; Becker, Regina; Thorogood, Adrian; Rebers, Susanne; Mežinska, Signe; Mayrhofer, Michaela Th.; Tzortzatou, Olga; Makri, Marina; Matei, Mihaela
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.7590786

Draft version for stakeholder interaction and discussion - 1+MG Incidental Findings Policy - Summary and Recommendations

Autori: Rebers, Susanne; Thorogood, Adrian; B1MG WP2; 1+MG WG2
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6362089

D4.1Secure cross-border data access roadmap — 1v1r1

Autori: Spalding, Dylan; Nyrönen, Tommi; Lehväslaiho, Heikki; Riski, Riku; Lappalainen, Ilkka; Persson, Bengt; Beltran, Sergi; Becker, Regina; Arenas Marquez, Juan
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.6139231

A Maturity Level Model (MLM) for the self-assessment of genomic medicine practices in healthcare systems

Autori: Cardoso, maria Luis; Lopes, Fatima; Costa, Alexandra; Santos, Osvaldo; Konopko, Melissa; Merchant, Arshiya; Thorogood, Adrian; Saunders, Gary; Custers, Ilse; Bulcke, Marc Van Den; Schmitt, Tugce; Bogicevic, Ivana; Cividanes, Lene; Spalding, Dylan; Smith, Maeve; Bale, Mark; Pitini, Erica; Villari, Paolo; Baccolini, Valentina; Balciuniene, Anzelika; Ambrozaityte, Laima; Doménech, Elena; Martin-Sanc
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8135894

B1MG D4.2 Secure data access demonstrator

Autori: Spalding, Dylan; Nyrönen, Tommi; Becker, Regina; Gu, Wei; Freeberg, Mallory; Arenas Marquez, Juan; Patocs, Attila; Scherer, Andreas; Beltran, Sergi; Beliën, Jeroen
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.7590821

B1MG M2.1 Inventory of relevant stakeholders, initiatives and policies that can give inputs to B1MG WP2

Autori: Panagiotopoulou, Maria; Mayrhofer, Michaela Th.
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5006455

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Autori: Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvó, Alberto; Fernández-Callejo, Marcos; Garcia-Linares, Carles; Hernandez-Ferrer, Carles; Luengo, Cristina; Martínez, Inés; Papakonstantinou, Anastasios; Picó-Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayés, Mònica; Bullich, Gemma; Camps-Puchadas, Jordi; Paramonov, Ida; Trotta, Jean-Rémi; Alonso, Angel; Attimonelli,
Pubblicato in: Human Mutation: Variation, Informatics and Disease, 43(6), 717 - 733. WILEY, 2022
Editore: Wiley Online library
DOI: 10.1002/humu.24353

B1MG D1.4 Report of Stakeholders Forum 2022 including recommendations to the 1+MG Working Groups

Autori: Chatterjee, Anamika; Kok, Ruben; Van Rijswijk, Merlijn; Scollen, Serena; Habermann, Niina
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.7590742

1+MG Transparency and Consent Guidance - version for 1+MG Framework

Autori: Matei, Mihaela; Thorogood, Adrian; Rebers, Susanne; Becker, Regina; Mezinska, Signe; Panagiotopoulou, Maria; Mayrhofer, Michaela Th.; Adeniran, Ayodeji
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8279851

Beyond 1 Million Genomes (B1MG) D3.3 The B1MG data analysis challenge

Autori: Gut, Ivo; Aguileta Estrada, Gabriela; Cuppen, Edwin; Wirta, Valtteri; Hovig, Eivind; Matthijs, Gert
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10057878

Ethical, legal, and social implications in research biobanking: A checklist for navigating complexity

Autori: Olga Tzortzatou‐Nanopoulou; Kaya Akyüz; Melanie Goisauf; Łukasz Kozera; Signe Mežinska; Michaela Th. Mayrhofer; Santa Slokenberga; Jane Reichel; Talishiea Croxton; Alexandra Ziaka; Marina Makri
Pubblicato in: Wiley online library - Developing World Bioethics, 2023
Editore: Wiley online library
DOI: 10.1111/dewb.12411

Towards cross-border access to human genomes and clinical information at scale for research and healthcare

Autori: All 1+MG Initiative and B1MG and GDI project experts
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8135976

B1MG M6.3 Project website is live

Autori: Cook, Martin; Perez Sitja, Xenia
Pubblicato in: 2020
Editore: Zenodo
DOI: 10.5281/zenodo.4291920

B1MG M2.2 Draft policies and best practice guidelines

Autori: Rebers, Susanne; Mežinska, Signe; Matei, Mihaela; Thorogood, Adrian; Becker, Regina
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6362216

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

Autori: Arenas Marquez, Juan
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.7541520

B1MG D6.4 Project Handbook 2v0

Autori: Arenas Marquez, Juan; Coutts, Nikki; Perez Sitja, Xenia
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5704929

B1MG D6.1 - Project Handbook 1v0

Autori: Arenas Marquez, Juan; Coutts, Nikki; Hurst, Hannah
Pubblicato in: 2020
Editore: Zenodo
DOI: 10.5281/zenodo.5018457

Beyond 1 Million Genomes (B1MG) D5.3 Economic models methodology and case studies

Autori: Imaz-Iglesia, Iñaki; Sánchez-Piedra, Carlos A.; Custers, Ilse; Gonçalves, Fátima; Vicente, Astrid; Merchant, Arshiya; Villari, Paolo; Migliara, Giuseppe
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8183336

Beyond 1 Million Genomes (B1MG) D4.3 Secure cross-border data access roadmap - 2v0

Autori: Spalding, Dylan; Nyrönen, Tommi; Riski, Riku
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10046981

B1MG D6.3 - Communication Strategy

Autori: Perez Sitja, Xenia; Arenas Marquez, Juan; Oldoni, Emanuela; Coutts, Nikki
Pubblicato in: 2020
Editore: Zenodo
DOI: 10.5281/zenodo.5018436

Beyond 1 Million Genomes (B1MG) M4.1 - Technology and ELSI compliance check (milestone slide)

Autori: Spalding, Dylan
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8427511

Beyond 1 Million Genomes (B1MG) M3.6 - Phenotypic and clinical metadata framework. An agreed minimal phenotypic and clinical metadataset, a set of agreed quality parameters for the shared metadata

Autori: Belien, Jeroen
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10022897

B1MG D3.4 Phenotypic and clinical metadata framework — 1v0

Autori: Beliën, Jeroen; Gut, Ivo; Groot, Harmke; Ligtvoet, Maarten; Volkert, Pim; Gu, Wei; Korbel, Jan; Tebaldi, Michela; Urbini, Milena; Martinelli, Giovanni; Riba, Michela; Pinto, Catia; Soares, Flávio; Hermansson, Ulrika; Valencia, Alfonso; Ambrozaityte, Laima; Jarmalaite, Sonata; Aittomaki, Kristiina; Laivuori, Hannele; Lindström, Rutt; Hoen, Peter-Bram't; Becker, Regina; Serrano, Pablo
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6573853

Draft version for stakeholder interaction and discussion - B1MG Legal Taxonomy status-April 2021 - Taxonomy of member state legal requirements applicable to cross-border exchange of health and genetic data in the European 1+MG Project

Autori: Tzortzatou, Olga; Thorogood, Adrian; Becker, Regina; B1MG WP2; 1+MG WG2
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6362332

B1MG M5.1 Country exchange visits concluded

Autori: Scollen, Serena; Merchant, Arshiya; Vicente, Astrid; Costa, Alexandra; Lopes, Fátima
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5801715

1+MG Incidental Findings Policy - Summary and Recommendations - version for 1+MG Framework

Autori: Rebers, Susanne; Thorogood, Adrian; Becker, Regina
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8279737

B1MG D3.1 - Quality metrics for sequencing

Autori: Gut, Ivo; Estelles, Lucia; Cuppen, Edwin; Wirta, Valtteri; Hovig, Eivind; Volkert, Pim; Matthijs, Gert
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5018495

Presentation - Introduction to B1MG and 1+MG

Autori: Arenas Marquez, Juan; Scollen, Serena
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6400728

B1MG D3.5 - Phenotypic and clinical metadata framework - 2v0

Autori: Beliën, Jeroen; Gut, Ivo; Groot, Harmke; Ligtvoet, Maarten; Volkert, Pim; Gu, Wei; Korbel, Jan; Tebaldi, Michela; Urbini, Milena; Martinelli, Giovanni; Riba, Michela; Pinto, Catia; Soares, Flávio; Lourenço, Inês; Hermansson, Ulrika; Valencia, Alfonso; Ambrozaityte, Laima; Jarmalaite, Sonata; Aittomaki, Kristiina; Laivuori, Hannele; Lindström, Rutt; Hoen, Peter-Bram't; Lindholm, Evita Maria; B
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.7554481

B1MG / 1+MG: IT infrastructure requirements based on a data protection by design and default approach

Autori: Becker, Regina; Peter, Sarah; Trefois, Christophe; Gu, Wei; Chokoshvili, Davit
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8399424

B1MG M1.2 Stakeholder Coordination Group portal goes live

Autori: Oldoni, Emanuela; Andreu, Toni; Arenas Marquez, Juan; Horgan, Denis; Bernini, Chiara; Kok, Ruben
Pubblicato in: 2020
Editore: Zenodo
DOI: 10.5281/zenodo.4291938

D2.3 Report on legal set-up and DPIA.

Autori: Bovenberg, Jasper, Tzortzatou, Olga, Makri, Marina, Ziaka, Alexandra
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8411067

Draft version for stakeholder interaction and discussion - Recommendations for a 1+MG Data Inclusion Governance Framework

Autori: Thorogood, Adrian; Becker, Regina; B1MG WP2; 1+MG WG2
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6363179

B1MG D1.5 Stakeholders trust in genomic data sharing landscape analysis

Autori: Horgan, Denis; Boccia, Stefania; Becker, Regina; Scollen, Serena; Merchant, Arshiya; van El, Carla; Hoxaj, Ilda; Sassano, Michele; Pezzullo, Angelo; Julkowska, Daria
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6382431

1+MG / B1MG Maturity Level Model (MLM) Glossary

Autori: Lopes, Fátima; Costa, Alexandra; Cardoso, Maria Luís; Vicente, Astrid
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10067138

B1MG D6.8 - Policy briefs - 1v0

Autori: López, Pepa; Rodríguez, Esther
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5727650

B1MG D6.7 Guiding principles and best practices examples for mirror groups

Autori: Doménech, Elena; Ponce, Ángela; Martín, Fernando; Arenas Marquez, Juan
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10058201

B1MG M3.4 The B1MG data analysis challenge call

Autori: Gut, Ivo; Estelles, Lucia
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5770489

B1MG M3.6.1 First release of the Accessible Genome Dashboard available

Autori: Beliën, Jeroen
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.7544000

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

Autori: Arenas Marquez, Juan
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.7541515

B1MG D1.2 - Generation of a stakeholder portal within the project webpage containing the information resulting from the activities of the SCG

Autori: Oldoni, Emanuela; Andreu, Toni; van Rijswijk, Merlijn; Kok, Ruben; Perez Sitja, Xenia; Coutts, Nikki; Arenas Marquez, Juan
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5018381

B1MG M2.4 Draft policy and access framework for discussion with internal and external stakeholders

Autori: Becker, Regina; Thorogood, Adrian
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6363246

Beyond 1 Million Genomes (B1MG) D1.7 B1MG recommendation on citizens engagement and public trust in genomic data sharing

Autori: Van El, Carla; Vermeulen, Eric; Merchant, Arshiya
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8403576

B1MG M3.1 Outcome of consultation on applied quality metrics published.

Autori: Gut, Ivo; Beliën, Jeroen
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.4558898

Beyond 1 million genomes (B1MG) A Roadmap for Genomics in Healthcare

Autori: Lopes, Fátima; Costa, Alexandra; Cardoso, Maria Luís; Konopko, Melissa; Merchant, Arshiya; Scollen, Serena; Vicente, Astrid
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10067169

B1MG 2nd Stakeholder meeting (17/11/2021) - agenda

Autori: Scollen, Serena; Kok, Ruben; Horgan, Denis; Coutts, Nikki
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6402273

Draft version for stakeholder interaction and discussion - 1+MG Consent Recommendations

Autori: Matei, Mihaela; Panagiotopoulou, Maria; Thorogood, Adrian; Chokoshvili, Davit; Becker, Regina; 1+MG WG2; B1MG WP2
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6363194

Draft version for stakeholder interaction and discussion - B1MG Policy Document - B1MG WP2 - Recommendations for a 1+MG Minimal Standards for Inclusion of Special Subjects

Autori: Mežinska, Signe; Becker, Regina; Matei, Mihaela; Rebers, Susanne; Thorogood, Adrian
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.6362184

Beyond 1 Million Genomes (B1MG) D2.2 Policy document for a genome data sharing initiative

Autori: Rebers, Suzanne; Mežinska, Signe; Thorogood, Adrian; Becker, Regina
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8199372

B1MG WP2 Recommendations for a 1+MG Minimal Standards for Inclusion of Special Subjects - version for 1+MG Framework

Autori: Becker, Regina; Matei, Mihaela; Rebers, Susanne; Thorogood, Adrian
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8279861

B1MG M5.3 Harmonised economic modelling methodology

Autori: Custers, Ilse
Pubblicato in: 2022
Editore: Zenodo
DOI: 10.5281/zenodo.7433318

Cooperation of ESFRI Research Infrastructures (Landmarks) with Industry

Autori: Bučar, Maja; Gerdina, Otto; Brečko, Barbara
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8178550

B1MG M1.1 - Establishment of Stakeholder Coordination Group

Autori: Horgan, Denis
Pubblicato in: 2020
Editore: Zenodo
DOI: 10.5281/zenodo.4291959

B1MG WP2 - Recommendation of minimal standards for feedback provision of general results of research studies conducted with data provided through 1+MG to data subjects - version for the 1+MG Framework

Autori: Rebers, Susanne
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8279796

B1MG / 1+MG - Overview of standards (related to B1MG D3.6 Phenotypic and clinical metadata framework - 3v0)

Autori: Beliën, Jeroen; Gut, Ivo; Groot, Harmke; Ligtvoet, Maarten; Volkert, Pim; Gu, Wei; Korbel, Jan; Tebaldi, Michela; Urbini, Milena; Martinelli, Giovanni; Riba, Michela; Pinto, Catia; Mendes, Vanessa; Lourenço, Inês; Hermansson, Ulrika; Valencia, Alfonso; Ambrozaityte, Laima; Jarmalaite, Sonata; Aittomaki, Kristiina; Laivuori, Hannele; Lindström, Rutt; Hoen, Peter-Bram't; Lindholm, Evita Maria; B
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10058527

B1MG D6.6 - Analysis and assessment of mirror groups

Autori: Lopez, Pepa; Rodriguez, Esther; Arenas Marquez, Juan
Pubblicato in: 2021
Editore: Zenodo
DOI: 10.5281/zenodo.5018535

B1MG M3.6.2 Final release of the Accessible Genome Dashboard

Autori: Beliën, Jeroen
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.8183687

Beyond 1 Million Genomes (B1MG) M3.5 The B1MG data analysis challenge results

Autori: Gut, Ivo; Aguileta Estrada, Gabriela
Pubblicato in: 2023
Editore: Zenodo
DOI: 10.5281/zenodo.10362428

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Autori: Heidi L. Rehm; Heidi L. Rehm; Angela Page; Lindsay Smith; Jeremy Adams; Gil Alterovitz; Gil Alterovitz; Lawrence J. Babb; Maxmillian P. Barkley; Michael Baudis; Michael Baudis; Michael J.S. Beauvais; Tim Beck; Jacques S. Beckmann; Sergi Beltran; Sergi Beltran; Alexander Bernier; James K. Bonfield; Tiffany Boughtwood; Guillaume Bourque; Sarion R. Bowers; Anthony J. Brookes; Michael Brudno; Matthew
Pubblicato in: Cell genomics, vol. 1, no. 2, pp. 100029, Numero 1, 2021, ISSN 2666-979X
Editore: Elsevier BV
DOI: 10.1016/j.xgen.2021.100029

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