Results 31 to 40 of about 130 (105)
Position paper on management of personal data in environment and health research in Europe
Environment International, 2022 Management of datasets that include health information and other sensitive personal information of European study participants has to be compliant with the General Data Protection Regulation (GDPR, Regulation (EU) 2016/679).Govarts Eva, Gilles Liese, Bopp Stephanie, Holub Petr, Matalonga Leslie, Vermeulen Roel, Vrijheid Martine, Beltran Sergi, Hartlev Mette, Jones Sarah, Rodriguez Martin Laura, Standaert Arnout, Swertz Morris A., Theunis Jan, Trier Xenia, Vogel Nina, Van Espen Koert, Remy Sylvie, Schoeters Greet +18 moredoaj +1 more sourceTackling the translational challenges of multi-omics research in the realm of European personalised medicine: A workshop report
Frontiers in Molecular Biosciences, 2022 Personalised medicine (PM) presents a great opportunity to improve the future of individualised healthcare. Recent advances in -omics technologies have led to unprecedented efforts characterising the biology and molecular mechanisms that underlie the ...Emanuela Oldoni, Gary Saunders, Florence Bietrix, Maria Laura Garcia Bermejo, Anna Niehues, Anna Niehues, Peter A. C. ’t Hoen, Jessica Nordlund, Marian Hajduch, Andreas Scherer, Katja Kivinen, Katja Kivinen, Katja Kivinen, Esa Pitkänen, Esa Pitkänen, Esa Pitkänen, Tomi Pekka Mäkela, Tomi Pekka Mäkela, Ivo Gut, Serena Scollen, Łukasz Kozera, Manel Esteller, Manel Esteller, Manel Esteller, Manel Esteller, Leming Shi, Anton Ussi, Antonio L. Andreu, Alain J. van Gool +28 moredoaj +1 more sourceLinking the ECRIN Metadata Repository with the BBMRI-ERIC Directory to connect clinical studies with related biobanks and collections [version 2; peer review: 1 approved, 2 approved with reservations]
Open Research EuropeBackground There is much value to be gained by linking clinical studies and (biosample-) collections that have been generated in the context of a clinical study. However, the linking problem is hard because usually no direct references between a clinical Christian Ohmann, Steve Canham, Vittorio Meloni, Kurt Majcen, Alessandro Sulis, Luca Pireddu, Francesca Frexia, Giovanni Delussu, Petr Holub +8 moredoaj +1 more sourceThe Data Use Ontology to streamline responsible access to human biomedical datasets
Cell Genomics, 2021 Summary: Human biomedical datasets that are critical for research and clinical studies to benefit human health also often contain sensitive or potentially identifying information of individual participants.Jonathan Lawson, Moran N. Cabili, Giselle Kerry, Tiffany Boughtwood, Adrian Thorogood, Pinar Alper, Sarion R. Bowers, Rebecca R. Boyles, Anthony J. Brookes, Matthew Brush, Tony Burdett, Hayley Clissold, Stacey Donnelly, Stephanie O.M. Dyke, Mallory A. Freeberg, Melissa A. Haendel, Chihiro Hata, Petr Holub, Francis Jeanson, Aina Jene, Minae Kawashima, Shuichi Kawashima, Melissa Konopko, Irene Kyomugisha, Haoyuan Li, Mikael Linden, Laura Lyman Rodriguez, Mizuki Morita, Nicola Mulder, Jean Muller, Satoshi Nagaie, Jamal Nasir, Soichi Ogishima, Vivian Ota Wang, Laura D. Paglione, Ravi N. Pandya, Helen Parkinson, Anthony A. Philippakis, Fabian Prasser, Jordi Rambla, Kathy Reinold, Gregory A. Rushton, Andrea Saltzman, Gary Saunders, Heidi J. Sofia, John D. Spalding, Morris A. Swertz, Ilia Tulchinsky, Esther J. van Enckevort, Susheel Varma, Craig Voisin, Natsuko Yamamoto, Chisato Yamasaki, Lyndon Zass, Jaime M. Guidry Auvil, Tommi H. Nyrönen, Mélanie Courtot +56 moredoaj +1 more sourceBbmri-Eric Use Cases
, 2016 This is a working document providing high-level overview of BBMRI-ERIC use cases.Holub, Petr, Quinlan, Philip, DiezFraile, Araceli, Hummel, Michael, Kuhn, Klaus, Litton, Jan-Eric, Müller, Heimo, Swertz, Morris, Ückert, Frank, Valík, Dalibor, Vojtíšek, Ondřej, Zanetti, Gianluigi +11 moreopenaire +2 more sourcesPerformance Indicators for BBMRI-ERIC
, 2016 The purpose of this document is to summarize a first set of performance indicators related to the vision, mission, and tasks of BBMRI-ERIC expressed in the BBMRI-ERIC Statutes. It aims at providing ground for further discussions and consensus searching activities within the community and among its various stakeholders. After a consensus is reached, the Holub, Petr, Litton, Jan-Eric, Wutte, Andrea, Törnwall, Outi, Mayrhofer, Michaela Th., Management Committee Of BBMRI-ERIC +5 moreopenaire +3 more sourcesGA4GH: International policies and standards for data sharing across genomic research and healthcare
Cell Genomics, 2021 Summary: The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of Heidi L. Rehm, Angela J.H. Page, Lindsay Smith, Jeremy B. Adams, Gil Alterovitz, Lawrence J. Babb, Maxmillian P. Barkley, Michael Baudis, Michael J.S. Beauvais, Tim Beck, Jacques S. Beckmann, Sergi Beltran, David Bernick, Alexander Bernier, James K. Bonfield, Tiffany F. Boughtwood, Guillaume Bourque, Sarion R. Bowers, Anthony J. Brookes, Michael Brudno, Matthew H. Brush, David Bujold, Tony Burdett, Orion J. Buske, Moran N. Cabili, Daniel L. Cameron, Robert J. Carroll, Esmeralda Casas-Silva, Debyani Chakravarty, Bimal P. Chaudhari, Shu Hui Chen, J. Michael Cherry, Justina Chung, Melissa Cline, Hayley L. Clissold, Robert M. Cook-Deegan, Mélanie Courtot, Fiona Cunningham, Miro Cupak, Robert M. Davies, Danielle Denisko, Megan J. Doerr, Lena I. Dolman, Edward S. Dove, L. Jonathan Dursi, Stephanie O.M. Dyke, James A. Eddy, Karen Eilbeck, Kyle P. Ellrott, Susan Fairley, Khalid A. Fakhro, Helen V. Firth, Michael S. Fitzsimons, Marc Fiume, Paul Flicek, Ian M. Fore, Mallory A. Freeberg, Robert R. Freimuth, Lauren A. Fromont, Jonathan Fuerth, Clara L. Gaff, Weiniu Gan, Elena M. Ghanaim, David Glazer, Robert C. Green, Malachi Griffith, Obi L. Griffith, Robert L. Grossman, Tudor Groza, Jaime M. Guidry Auvil, Roderic Guigó, Dipayan Gupta, Melissa A. Haendel, Ada Hamosh, David P. Hansen, Reece K. Hart, Dean Mitchell Hartley, David Haussler, Rachele M. Hendricks-Sturrup, Calvin W.L. Ho, Ashley E. Hobb, Michael M. Hoffman, Oliver M. Hofmann, Petr Holub, Jacob Shujui Hsu, Jean-Pierre Hubaux, Sarah E. Hunt, Ammar Husami, Julius O. Jacobsen, Saumya S. Jamuar, Elizabeth L. Janes, Francis Jeanson, Aina Jené, Amber L. Johns, Yann Joly, Steven J.M. Jones, Alexander Kanitz, Kazuto Kato, Thomas M. Keane, Kristina Kekesi-Lafrance, Jerome Kelleher, Giselle Kerry, Seik-Soon Khor, Bartha M. Knoppers, Melissa A. Konopko, Kenjiro Kosaki, Martin Kuba, Jonathan Lawson, Rasko Leinonen, Stephanie Li, Michael F. Lin, Mikael Linden, Xianglin Liu, Isuru Udara Liyanage, Javier Lopez, Anneke M. Lucassen, Michael Lukowski, Alice L. Mann, John Marshall, Michele Mattioni, Alejandro Metke-Jimenez, Anna Middleton, Richard J. Milne, Fruzsina Molnár-Gábor, Nicola Mulder, Monica C. Munoz-Torres, Rishi Nag, Hidewaki Nakagawa, Jamal Nasir, Arcadi Navarro, Tristan H. Nelson, Ania Niewielska, Amy Nisselle, Jeffrey Niu, Tommi H. Nyrönen, Brian D. O’Connor, Sabine Oesterle, Soichi Ogishima, Vivian Ota Wang, Laura A.D. Paglione, Emilio Palumbo, Helen E. Parkinson, Anthony A. Philippakis, Angel D. Pizarro, Andreas Prlic, Jordi Rambla, Augusto Rendon, Renee A. Rider, Peter N. Robinson, Kurt W. Rodarmer, Laura Lyman Rodriguez, Alan F. Rubin, Manuel Rueda, Gregory A. Rushton, Rosalyn S. Ryan, Gary I. Saunders, Helen Schuilenburg, Torsten Schwede, Serena Scollen, Alexander Senf, Nathan C. Sheffield, Neerjah Skantharajah, Albert V. Smith, Heidi J. Sofia, Dylan Spalding, Amanda B. Spurdle, Zornitza Stark, Lincoln D. Stein, Makoto Suematsu, Patrick Tan, Jonathan A. Tedds, Alastair A. Thomson, Adrian Thorogood, Timothy L. Tickle, Katsushi Tokunaga, Juha Törnroos, David Torrents, Sean Upchurch, Alfonso Valencia, Roman Valls Guimera, Jessica Vamathevan, Susheel Varma, Danya F. Vears, Coby Viner, Craig Voisin, Alex H. Wagner, Susan E. Wallace, Brian P. Walsh, Marc S. Williams, Eva C. Winkler, Barbara J. Wold, Grant M. Wood, J. Patrick Woolley, Chisato Yamasaki, Andrew D. Yates, Christina K. Yung, Lyndon J. Zass, Ksenia Zaytseva, Junjun Zhang, Peter Goodhand, Kathryn North, Ewan Birney +201 moredoaj +1 more sourceGenetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy
Acta Ophthalmologica, EarlyView.Abstract Purpose
To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods
We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen +10 morewiley +1 more source