ELSI research and publications

Publications, Impact & Outreach

Articles

2024

Akyüz K, Cano Abadía M, Goisauf M and Mayrhofer MT (2024). Unlocking the potential of big data and AI in medicine: insights from biobanking. Frontiers in Medicine. 11:1336588. https://doi.org/10.3389/fmed.2024.1336588 Open access

Akyüz, Kaya, Melanie Goisauf, Gillian M. Martin, Michaela Th. Mayrhofer, Stella Antoniou, Georgia Charalambidou, Constantinos Deltas, Apostolos Malatras, Gregory Papagregoriou, Charalambos Stefanou, and Mariel Voutounou. 2024. “Risk mapping for better governance in biobanking: the case of biobank.cy.” Frontiers in Genetics 15. doi: 10.3389/fgene.2024.1397156. Open access

Casati, Sara, and Bridget Ellul. 2024. “ELSI challenges with children in Translational Medicine.“ IntechOpen. doi: 10.5772/intechopen.1002550. Open access

Rujano, Maria A., Jan-Willem Boiten, Christian Ohmann, Steve Canham, Sergio Contrino, Romain David, Jonathan Ewbank, Claudia Filippone, Claire Connellan, Ilse Custers, Rick van Nuland, Michaela Th Mayrhofer, Petr Holub, Eva García Álvarez, Emmanuel Bacry, Nigel Hughes, Mallory A. Freeberg, Birgit Schaffhauser, Harald Wagener, Alex Sánchez-Pla, Guido Bertolini, and Maria Panagiotopoulou. 2024. “Sharing sensitive data in life sciences: an overview of centralized and federated approaches.” Briefings in Bioinformatics 25 (4):bbae262. doi: 10.1093/bib/bbae262. Open access

2023

Akyüz, K., Goisauf, M., Chassang, G., Kozera, Ł., Mežinska, S., Tzortzatou-Nanopoulou, O., & Mayrhofer, M. T. (2023). Post-identifiability in changing sociotechnological genomic data environments. BioSocieties. Open access

Bernier Alexander, Molnár-Gábor Fruzsina, Knoppers Bartha M., Borry Pascal, Cesar Priscilla M. D. G., Devriendt Thijs, Goisauf Melanie, Murtagh Madeleine, Nicolás Jiménez Pilar, Recuero Mikel, Rial-Sebbag Emmanuelle, Shabani Mahsa, Wilson Rebecca C., Zaccagnini Davide, Maxwell Lauren, Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory. Eur J Hum Genet (2023). Open access

David, R., A. Rybina, J.-M. Burel, J.-K. Heriche, P. Audergon, J.-W. Boiten, F. Coppens, S. Crockett, K. Exter, S. Fahrner, M. Fratelli, C. Goble, P. Gormanns, T. Grantner, B. Grüning, K. T. Gurwitz, J. M. Hancock, H. Harmse, P. Holub, N. Juty, G. Karnbach, E. Karoune, A. Keppler, J. Klemeier, C. Lancelotti, J.-L. Legras, A. L. Lister, D. L. Longo, R. Ludwig, B. Madon, M. Massimi, V. Matser, R. Matteoni, M. T. Mayrhofer, C. Ohmann, M. Panagiotopoulou, H. Parkinson, I. Perseil, C. Pfander, R. Pieruschka, M. Raess, A. Rauber, A. S. Richard, P. Romano, A. Rosato, A. Sánchez-Pla, S.-A. Sansone, U. Sarkans, B. Serrano-Solano, J. Tang, Z. Tanoli, J. Tedds, H. Wagener, M. Weise, H. V. Westerhoff, R. Wittner, J. Ewbank, N. Blomberg and P. Gribbon (2023). ““Be sustainable”: EOSC-Life recommendations for implementation of FAIR principles in life science data handling.” The EMBO Journal 42(23): e115008. Open Access

Fortier, I., Wey, T. W., Bergeron, J., Pinot de Moira, A., Nybo-Andersen, A.-M., Bishop, T., Murtagh, M. J., Miočević, M., Swertz, M. A., van Enckevort, E., Marcon, Y., Mayrhofer, M. T., Ornelas, J. P., Sebert, S., Santos, A. C., Rocha, A., Wilson, R. C., Griffith, L. E. and Burton, P. (2023) “Life course of retrospective harmonization initiatives: key elements to consider,” Journal of Developmental Origins of Health and Disease, Cambridge University Press, 14(2), pp. 190–198. Open Access

Fritzsche, Marie-Christine, Kaya Akyüz, Mónica Cano Abadía, Stuart McLennan, Pekka Marttinen, Michaela Th. Mayrhofer, and Alena M. Buyx. Ethical Layering in Ai-Driven Polygenic Risk Scores—New Complexities, New Challenges. Perspective. Frontiers in Genetics 14 (2023-January-26 2023). Open Access

Holub, Petr, Müller, Heimo, Bíl, Tomáš, Pireddu, Luca, Plass, Markus, Prasser, Fabian, Schlünder, Irene, Zatloukal, Kurt, Nenutil, Rudolf and Brázdil, Tomáš. (2023). Privacy risks of whole-slide image sharing in digital pathology. Nature Communications, 14(1), 2577. Open Access

Marelli, L., M. Stevens, T. Sharon, I. Van Hoyweghen, M. Boeckhout, I. Colussi, A. Degelsegger-Márquez, S. El-Sayed, K. Hoeyer, R. van Kessel, D. K. Zając, M. Matei, S. Roda, B. Prainsack, I. Schlünder, M. Shabani and T. Southerington (2023). “The European health data space: Too big to succeed?” Health Policy 135: 104861. Open Access

Tzortzatou-Nanopoulou, O., Akyüz, K., Goisauf, M., Kozera, Ł., Mežinska, S., Th. Mayrhofer, M., Slokenberga, S., Reichel, J., Croxton, T., Ziaka, A., & Makri, M. (2023). Ethical, legal, and social implications in research biobanking: A checklist for navigating complexity. Developing World Bioethics. Open Access

Vears, Danya F., Hallowell Nina, Bentzen Heidi Beate, Ellul Bridget, Nøst Therese Haugdahl, Kerasidou Angeliki, Kerr Shona M., Mayrhofer Michaela Th, Mežinska Signe, Ormondroyd Elizabeth, Solberg Berge, Sand Birgitte Wirum, Budin-Ljøsne Isabelle. A practical checklist for return of results from genomic research in the European context. Eur J Hum Genet (2023). Open Access

2022

Casati S, Ellul B, Mayrhofer MT, Lavitrano M, Caboux E, Kozlakidis Z. Paediatric biobanking for health: The ethical, legal, and societal landscape. Front Public Health. 2022 Sep 27;10:917615. doi: 10.3389/fpubh.2022.917615. PMID: 36238242; PMCID: PMC9551217. Open Access

David R, Ohmann C, Boiten JW, Abadía MC, Bietrix F, Canham S, Chiusano ML, Dastrù W, Laroquette A, Longo D, Mayrhofer MT, Panagiotopoulou M, Richard AS, Goryanin S, Verde PE. An iterative and interdisciplinary categorisation process towards FAIRer digital resources for sensitive life-sciences data. Sci Rep. 2022 Dec 5;12(1):20989. doi: 10.1038/s41598-022-25278-z. PMID: 36470968; PMCID: PMC9723099. Open Access

Fortier I, Wey TW, Bergeron J, Pinot de Moira A, Nybo-Andersen AM, Bishop T, Murtagh MJ, Miočević M, Swertz MA, van Enckevort E, Marcon Y, Mayrhofer MT, Ornelas JP, Sebert S, Santos AC, Rocha A, Wilson RC, Griffith LE, Burton P. Life course of retrospective harmonization initiatives: key elements to consider. J Dev Orig Health Dis. 2022 Aug 12:1-9. doi: 10.1017/S2040174422000460. Epub ahead of print. PMID: 35957574. Open Access

Bak M, Madai VI, Fritzsche MC, Mayrhofer MT, McLennan S. You Can’t Have AI Both Ways: Balancing Health Data Privacy and Access Fairly. Front Genet. 2022 Jun 13;13:929453. doi: 10.3389/fgene.2022.929453. PMID: 35769991; PMCID: PMC9234328. Open Access

Goisauf M, Cano Abadía M. Ethics of AI in Radiology: A Review of Ethical and Societal Implications. Front Big Data. 2022 Jul 14;5:850383. doi: 10.3389/fdata.2022.850383. PMID: 35910490; PMCID: PMC9329694. Open Access

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2021

Colombo C, Mayrhofer MT, Kubiak C, Battaglia S, Matei M, Lavitrano M, Casati S, Chico V, Schluender I, Carapina T, Mosconi P. The CORBEL matrix on informed consent in clinical studies: a multidisciplinary approach of Research Infrastructures Building Enduring Life-science Services. BMC Med Ethics. 2021 Jul 17;22(1):95. doi: 10.1186/s12910-021-00639-x. PMID: 34273983; PMCID: PMC8285862. Open Access

Akyüz K, Chassang G, Goisauf M, Kozera Ł, Mezinska S, Tzortzatou O, Mayrhofer MT. Biobanking and risk assessment: a comprehensive typology of risks for an adaptive risk governance. Life Sci Soc Policy. 2021 Dec 13;17(1):10. doi: 10.1186/s40504-021-00117-7. PMID: 34903285; PMCID: PMC8666836. Open Access

Oldoni E, van Gool A, García Bermejo L, Scherer A, Mayrhofer MT, Florindi F, Demotes J, Kubiak C, Fauvel AC, Bietrix F, Ussi A, Andreu AL. Biomarker Research and Development for Coronavirus Disease 2019 (COVID-19): European Medical Research Infrastructures Call for Global Coordination. Clin Infect Dis. 2021 May 18;72(10):1838-1842. doi: 10.1093/cid/ciaa1250. PMID: 33091118; PMCID: PMC7665366. Open Access

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2020

Goisauf, M., Akyüz, K. & Martin, G.M. Moving back to the future of big data-driven research: reflecting on the social in genomics. Humanit Soc Sci Commun 7, 55 (2020). Open Access

Holub P, Kozera L, Florindi F, van Enckevort E, Swertz M, Reihs R, Wutte A, Valík D, Mayrhofer MT; BBMRI-ERIC community. BBMRI-ERIC’s contributions to research and knowledge exchange on COVID-19. Eur J Hum Genet. 2020 Jun;28(6):728-731. doi: 10.1038/s41431-020-0634-8. Epub 2020 May 22. PMID: 32444797; PMCID: PMC7242892. Open Access

Catchpoole DR, Florindi F, Ahern C, Garcia DL, Mullins P, Van Enckevort E, Zaayenga A, Mayrhofer MT, Holub P. Expanding the BBMRI-ERIC Directory into a Global Catalogue of COVID-19-Ready Collections: A Joint Initiative of BBMRI-ERIC and ISBER. Biopreserv Biobank. 2020 Oct;18(5):479-480. doi: 10.1089/bio.2020.29075.drc. Epub 2020 Sep 15. PMID: 32936006.

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2019

Goisauf M, Martin G, Bentzen HB, Budin-Ljøsne I, Ursin L, Durnová A, Leitsalu L, Smith K, Casati S, Lavitrano M, Mascalzoni D, Boeckhout M, Mayrhofer MT. Correction: Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research. PLoS One. 2019 Dec 2;14(12):e0226149. doi: 10.1371/journal.pone.0226149. Erratum for: PLoS One. 2019 Sep 18;14(9):e0221496. PMID: 31790510; PMCID: PMC6886846. Open Access

Goisauf M, Martin G, Bentzen HB, Budin-Ljøsne I, Ursin L, Durnová A, Leitsalu L, Smith K, Casati S, Lavitrano M, Mascalzoni D, Boeckhout M, Mayrhofer MT. Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research. PLoS One. 2019 Sep 18;14(9):e0221496. doi: 10.1371/journal.pone.0221496. Erratum in: PLoS One. 2019 Dec 2;14(12):e0226149. PMID: 31532777; PMCID: PMC6750647. Open Access

Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S. Leveraging European infrastructures to access 1 million human genomes by 2022. Nat Rev Genet. 2019 Nov;20(11):693-701. doi: 10.1038/s41576-019-0156-9. Epub 2019 Aug 27. Erratum in: Nat Rev Genet. 2019 Sep 13;: PMID: 31455890; PMCID: PMC7115898. Open Access

Saunders G, Baudis M, Becker R, Beltran S, Béroud C, Birney E, Brooksbank C, Brunak S, Van den Bulcke M, Drysdale R, Capella-Gutierrez S, Flicek P, Florindi F, Goodhand P, Gut I, Heringa J, Holub P, Hooyberghs J, Juty N, Keane TM, Korbel JO, Lappalainen I, Leskosek B, Matthijs G, Mayrhofer MT, Metspalu A, Navarro A, Newhouse S, Nyrönen T, Page A, Persson B, Palotie A, Parkinson H, Rambla J, Salgado D, Steinfelder E, Swertz MA, Valencia A, Varma S, Blomberg N, Scollen S. Author Correction: Leveraging European infrastructures to access 1 million human genomes by 2022. Nat Rev Genet. 2019 Nov;20(11):702. doi: 10.1038/s41576-019-0178-3. Erratum for: Nat Rev Genet. 2019 Nov;20(11):693-701. PMID: 31520075. Open Access

Salman A, Baber R, Hannigan L, Habermann JK, Henderson MK, Mayrhofer MT, Afifi N. Qatar Biobank Milestones in Building a Successful Biobank. Biopreserv Biobank. 2019 Dec;17(6):485-486. doi: 10.1089/bio.2019.0083. PMID: 31833810. Open Access

Salman A, Baber R, Hannigan L, Habermann JK, Henderson MK, Mayrhofer MT, Afifi N. Quality Matters: A Global Discussion in Qatar. Biopreserv Biobank. 2019 Dec;17(6):487-490. doi: 10.1089/bio.2019.0073. PMID: 31833812; PMCID: PMC6998048. Open Access

Mascalzoni D, Bentzen HB, Budin-Ljøsne I, Bygrave LA, Bell J, Dove ES, Fuchsberger C, Hveem K, Mayrhofer MT, Meraviglia V, O’Brien DR, Pattaro C, Pramstaller PP, Rakic V, Rossini A, Shabani M, Svantesson DJB, Tomasi M, Ursin L, Wjst M, Kaye J. Are Requirements to Deposit Data in Research Repositories Compatible With the European Union’s General Data Protection Regulation? Ann Intern Med. 2019 Mar 5;170(5):332-334. doi: 10.7326/M18-2854. Epub 2019 Feb 12. PMID: 30776795.

Simell BA, Törnwall OM, Hämäläinen I, Wichmann HE, Anton G, Brennan P, Bouvard L, Slimani N, Moskal A, Gunter M, Zatloukal K, Minion JT, Soini S, Mayrhofer MT, Murtagh MJ, van Ommen GJ, Johansson M, Perola M; BBMRI-LPC Consortium (FP7 GA no. 313010). Transnational access to large prospective cohorts in Europe: Current trends and unmet needs. N Biotechnol. 2019 Mar 25;49:98-103. doi: 10.1016/j.nbt.2018.10.001. Epub 2018 Oct 17. PMID: 30342241. Open Access

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2018

Holub P, Kohlmayer F, Prasser F, Mayrhofer MT, Schlünder I, Martin GM, Casati S, Koumakis L, Wutte A, Kozera Ł, Strapagiel D, Anton G, Zanetti G, Sezerman OU, Mendy M, Valík D, Lavitrano M, Dagher G, Zatloukal K, van Ommen GB, Litton JE. Enhancing Reuse of Data and Biological Material in Medical Research: From FAIR to FAIR-Health. Biopreserv Biobank. 2018 Apr;16(2):97-105. doi: 10.1089/bio.2017.0110. Epub 2018 Jan 23. PMID: 29359962; PMCID: PMC5906729. Open Access

Mayrhofer MT, Schlünder I. Mind the Gap: From Tool to Knowledge Base. Biopreserv Biobank. 2018 Dec;16(6):458-462. doi: 10.1089/bio.2018.0018. Epub 2018 Aug 13. PMID: 30102551; PMCID: PMC6308279. Open Access

2016

Mayrhofer, Holub, Wutte, Litton: BBMRI-ERIC: the novel gateway to biobanks. From humans to humans, 1-6, 2016, DOI: 10.1007/s00103-015-2301-8

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Research

2024

Mayrhofer, Borecky, Kozlakidis, Stravopoulou, Surya, Ahmadlou & Farjaminejad (2024). canSERV Deliverable D11.3 Gap Analysis Report on Digital ELSI Services for Cancer Research, Including the Identification of two Exemplar Areas for Tool Development. Zenodo. Open access

2023

Akyüz, Kaya, Goisauf, Melanie, & Mayrhofer, Michaela Th. (2023). EUCAN-Connect Deliverable D7.3: Sustainability Plan. Zenodo. Open access

Goisauf, Melanie, and Mónica Cano Abadía. “Guidelines of Ethics and Social Implications of AI in Oncologic Imaging”. Zenodo, October 16, 2023. https://doi.org/10.5281/zenodo.10007543. Open access

Mayrhofer, Michaela Th, Akyüz, Kaya, Goisauf, Melanie, Wilson, Becca, & Avraam, Devetris. (2023). Deliverable D7.1: Governance context appraisal. Zenodo. Open Access

Mayrhofer, Michaela Th, Goisauf, Melanie, Akyüz, Kaya, Avraam, Demetris, Wilson, Becca, Swertz, Morris, Burton, Paul, & Murtagh, Madeleine. (2023). Deliverable D7.2: ELSI Governance Model and Data Management Plan for Federated Cohort Analysis. Open Access

Schlünder, Irene, Mayrhofer, Michaela Th, & Ene, Erdina. (2023). Elements of Secure Processing Environments (Workshop Report) V1.0. Zenodo. Open Access

2022

Goisauf, Melanie, Feriol, Lisa, & Rial-Sebbag, Emmanuelle. (2022). CINECA First recommendations for implementation in IT Framework (Incl. a Data Management Plan) D7.3 (Version 1). Zenodo. Open Access

Álvarez, Eva García, Ohmann, Christian, Saunders, Gary, Wagener, Harald, Colussi, Ilaria, Boiten, Jan-Willem, Panagiotopoulou, Maria, Cano Abadía, Mónica, David, Romain, Schluender, Irene, Holub, Petr, & Mayrhofer, Michaela Th. (2022). EOSC-Life Requirements for hosting/ distributing and access control for sensitive data. Zenodo. Open Access

Irene Kesisoglou, Shona Cosgrove, Pascal Derycke, Petronille Bogaert, Annika Jacobsen, Marco Roos, Anna Niemeyer, Alicia Martinez Garcia, Adrian Thorogood, Petr Holub, Irene Schluender, Salvador Capella-Gutierrez, Juan Gonzalez Garcia, Celia Alvarez Romero, Teresa D’Altri, Amy Curwin, Laura Portell Silva, & Lidia López Cuesta. (2022). Glossary of commonly used terms in the field of health data research – developed by the EU project HealthyCloud (1.0). Zenodo. Open Access

Panagiotopoulou, Maria, Yaïche, Sarhan, Michon, Amélie, Ohmann, Christian, Demotes, Jacques, Matei, Mihaela, Canham, Steve, Hjelle, Sigrun Margrethe, Klusek, Patrycja, Batuca, Joana, Schmid, Caecilia, Buoncervello, Maria, Toschi, Elena, Minghetti, Luisa, Chiusano, Maria Luisa, Vives Vilatersana, Adriana, Calvo I Orteu, María, Szabó, Zsolt, Součková, Lenka, Mayrhofer, Michaela Th.… Sonderlichová, Simona. (2022). EOSC-Life Public database inventorying the national health databases and registries and describing their access procedures for reuse for research purposes. Zenodo. Open Access

Ortega, Eva, María Berdasco, Carmen Guerra, Melanie Goisauf, and Martín-Arribas. Mª Concepción (2022). “Organoides Humanos. Aspectos Éticos, Legales y Sociales.” ANCEI V (4). Open Access

Christian Ohmann, Romain David, Mónica Cano Abadia, Florence Bietrix, Jan-Willem Boiten, Steve Canham, Maria Luisa Chiusano, Walter Dastrù, Arnaud Laroquette, Dario Longo, Michaela Theresia Mayrhofer, Maria Panagiotopoulou, Audrey Richard, Pablo Emilio Verde; Pilot Study on the Intercalibration of a Categorisation System for FAIRer Digital Objects Related to Sensitive Data in the Life Sciences. Data Intelligence 2022; 4 (2): 196–211. Open Access

2021

Cano Abadía, Mónica, Adeniran, Ayodeji, Ahern, Caitlin, Akyüz, Kaya, Casati, Sara, Colussi, Ilaria, Mayrhofer, Michaela Th., & Schlünder, Irene. (2021). BBMRI-ERIC ELSI Knowledge Base. Europe Biobank Week 2021. Zenodo. Open Access

EOSC-LIFE WP4 TOOLBOX: Toolbox for sharing of sensitive data — a concept description, Open Access

Devriendt T, Ammann C, W. Asselbergs F et al. An agenda-setting paper on data sharing platforms: euCanSHare workshop [version 2; peer review: 2 approved]. Open Res Europe 2021, 1:80. Open Access

Muller, M. T. Mayrhofer, E. -B. Van Veen and A. Holzinger, “The Ten Commandments of Ethical Medical AI,” in Computer, vol. 54, no. 7, pp. 119-123, July 2021, doi: 10.1109/MC.2021.3074263. Open Access

2020

Jahns, Roland, Lavitrano, Marialuisa, Chassang, Gauthier, Mayrhofer, Michaela Th., Goisauf, Melanie, Adeniran, Ayodeji, Akyüz, Kaya, Cano Abadía, Mónica, & Casati, Sara. (2020). BBMRI-ERIC ELSI Services & Research Q&A on COVID-19 & ELSI (Version V1). Zenodo. https://doi.org/10.5281/zenodo.3839273

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Reports

Proceedings of the 1st ELSI Symposium: Ethical, Legal and Societal Insights & Outlook for Biobanks and Medical Research. edited by Michaela Th. Mayrhofer, Zisis Kozlakidis and Marialuisa Lavitrano. Lyon: Zenodo. DOI: https://doi.org/10.5281/zenodo.12742870.

BBMRI ELSI WORKSHOP REPORT Sharing and access to data and human biospecimens for the benefit of patients – Towards a BBMRI-ERIC Policy, 2016

Report, Ethics Review of European Biobank Research: Towards Mutual RECognition? Organised and hosted by BBMRI ERIC Common Services ELSI
in joint collaboration with BBMRI Large Prospective Cohorts and B3Africa 12 September 2016, Messe Wien

Report, Biobanks and the Public, compiled by the ELSI WP of BBMRI-PP GA212111 & public writer, 2013

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How-to-Guides

Casati, Sara, and Bridget Ellul. “How-to Guide: Next Generation Biobanking/biobanking with the Next Generation”. Zenodo, May 31, 2024. https://doi.org/10.5281/zenodo.11400120. Open access

Goisauf, Melanie; Durnová, Anna; Grewal, Jasjote; Mayrhofer, Michaela “HOW-TO GUIDE: GOVERNANCE IN BIOBANKING”. Zenodo, 2019 (updated 08/2024). https://zenodo.org/records/13235459, Open access