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      Unlocking the potential of big data and AI in medicine: insights from biobanking

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          Abstract

          Big data and artificial intelligence are key elements in the medical field as they are expected to improve accuracy and efficiency in diagnosis and treatment, particularly in identifying biomedically relevant patterns, facilitating progress towards individually tailored preventative and therapeutic interventions. These applications belong to current research practice that is data-intensive. While the combination of imaging, pathological, genomic, and clinical data is needed to train algorithms to realize the full potential of these technologies, biobanks often serve as crucial infrastructures for data-sharing and data flows. In this paper, we argue that the ‘data turn’ in the life sciences has increasingly re-structured major infrastructures, which often were created for biological samples and associated data, as predominantly data infrastructures. These have evolved and diversified over time in terms of tackling relevant issues such as harmonization and standardization, but also consent practices and risk assessment. In line with the datafication, an increased use of AI-based technologies marks the current developments at the forefront of the big data research in life science and medicine that engender new issues and concerns along with opportunities. At a time when secure health data environments, such as European Health Data Space, are in the making, we argue that such meta-infrastructures can benefit both from the experience and evolution of biobanking, but also the current state of affairs in AI in medicine, regarding good governance, the social aspects and practices, as well as critical thinking about data practices, which can contribute to trustworthiness of such meta-infrastructures.

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          The FAIR Guiding Principles for scientific data management and stewardship

          There is an urgent need to improve the infrastructure supporting the reuse of scholarly data. A diverse set of stakeholders—representing academia, industry, funding agencies, and scholarly publishers—have come together to design and jointly endorse a concise and measureable set of principles that we refer to as the FAIR Data Principles. The intent is that these may act as a guideline for those wishing to enhance the reusability of their data holdings. Distinct from peer initiatives that focus on the human scholar, the FAIR Principles put specific emphasis on enhancing the ability of machines to automatically find and use the data, in addition to supporting its reuse by individuals. This Comment is the first formal publication of the FAIR Principles, and includes the rationale behind them, and some exemplar implementations in the community.
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            The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

            Abstract The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted and exome arrays with 1000 new associations added for these technologies. As of September 2018, the Catalog contains 5687 GWAS comprising 71673 variant-trait associations from 3567 publications. New content includes 284 full P-value summary statistics datasets for genome-wide and new targeted array studies, representing 6 × 109 individual variant-trait statistics. In the last 12 months, the Catalog's user interface was accessed by ∼90000 unique users who viewed >1 million pages. We have improved data access with the release of a new RESTful API to support high-throughput programmatic access, an improved web interface and a new summary statistics database. Summary statistics provision is supported by a new format proposed as a community standard for summary statistics data representation. This format was derived from our experience in standardizing heterogeneous submissions, mapping formats and in harmonizing content. Availability: https://www.ebi.ac.uk/gwas/.
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              International evaluation of an AI system for breast cancer screening

                Author and article information

                Contributors
                URI : https://loop.frontiersin.org/people/2169636/overviewRole: Role: Role:
                URI : https://loop.frontiersin.org/people/1633263/overviewRole: Role: Role:
                URI : https://loop.frontiersin.org/people/1381154/overviewRole: Role: Role:
                URI : https://loop.frontiersin.org/people/1517165/overviewRole: Role:
                Journal
                Front Med (Lausanne)
                Front Med (Lausanne)
                Front. Med.
                Frontiers in Medicine
                Frontiers Media S.A.
                2296-858X
                31 January 2024
                2024
                : 11
                : 1336588
                Affiliations
                Department of ELSI Services and Research, BBMRI-ERIC , Graz, Austria
                Author notes

                Edited by: Gokce Banu Laleci Erturkmen, Software Research and Development Consulting, Türkiye

                Reviewed by: Bertrand De Meulder, European Institute for Systems Biology and Medicine (EISBM), France

                *Correspondence: Kaya Akyüz, kaya.akyuez@ 123456bbmri-eric.eu
                Article
                10.3389/fmed.2024.1336588
                10864616
                38357641
                13268211-8386-4bbe-9042-4a42b5a08a7c
                Copyright © 2024 Akyüz, Cano Abadía, Goisauf and Mayrhofer.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

                History
                : 11 November 2023
                : 19 January 2024
                Page count
                Figures: 0, Tables: 0, Equations: 0, References: 81, Pages: 6, Words: 6189
                Funding
                The author(s) declare financial support was received for the research, authorship, and/or publication of this article. This publication was funded by BBMRI-ERIC in the context of the activities of BBMRI-ERIC’s ELSI Services and Research Unit.
                Categories
                Medicine
                Perspective
                Custom metadata
                Regulatory Science

                biobanks,artificial intelligence,big data,european health data space,infrastructures

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