Literature DB >> 31455890

Leveraging European infrastructures to access 1 million human genomes by 2022.

Gary Saunders1, Michael Baudis2, Regina Becker3, Sergi Beltran4,5, Christophe Béroud6,7, Ewan Birney8, Cath Brooksbank8, Søren Brunak9,10, Marc Van den Bulcke11, Rachel Drysdale1, Salvador Capella-Gutierrez12, Paul Flicek8, Francesco Florindi13, Peter Goodhand14,15, Ivo Gut4,5, Jaap Heringa16, Petr Holub13, Jef Hooyberghs17, Nick Juty18, Thomas M Keane8, Jan O Korbel19, Ilkka Lappalainen20, Brane Leskosek21, Gert Matthijs22, Michaela Th Mayrhofer13, Andres Metspalu23, Arcadi Navarro24,25,26, Steven Newhouse8, Tommi Nyrönen20, Angela Page15,27, Bengt Persson28, Aarno Palotie29, Helen Parkinson8, Jordi Rambla26, David Salgado6, Erik Steinfelder13, Morris A Swertz30, Alfonso Valencia12,31, Susheel Varma8, Niklas Blomberg1, Serena Scollen32.   

Abstract

Human genomics is undergoing a step change from being a predominantly research-driven activity to one driven through health care as many countries in Europe now have nascent precision medicine programmes. To maximize the value of the genomic data generated, these data will need to be shared between institutions and across countries. In recognition of this challenge, 21 European countries recently signed a declaration to transnationally share data on at least 1 million human genomes by 2022. In this Roadmap, we identify the challenges of data sharing across borders and demonstrate that European research infrastructures are well-positioned to support the rapid implementation of widespread genomic data access.

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Year:  2019        PMID: 31455890      PMCID: PMC7115898          DOI: 10.1038/s41576-019-0156-9

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  14 in total

1.  Are Requirements to Deposit Data in Research Repositories Compatible With the European Union's General Data Protection Regulation?

Authors:  Deborah Mascalzoni; Heidi Beate Bentzen; Isabelle Budin-Ljøsne; Lee Andrew Bygrave; Jessica Bell; Edward S Dove; Christian Fuchsberger; Kristian Hveem; Michaela Th Mayrhofer; Viviana Meraviglia; David R O'Brien; Cristian Pattaro; Peter P Pramstaller; Vojin Rakic; Alessandra Rossini; Mahsa Shabani; Dan Jerker B Svantesson; Marta Tomasi; Lars Ursin; Matthias Wjst; Jane Kaye
Journal:  Ann Intern Med       Date:  2019-02-12       Impact factor: 25.391

2.  The Matchmaker Exchange: a platform for rare disease gene discovery.

Authors:  Anthony A Philippakis; Danielle R Azzariti; Sergi Beltran; Anthony J Brookes; Catherine A Brownstein; Michael Brudno; Han G Brunner; Orion J Buske; Knox Carey; Cassie Doll; Sergiu Dumitriu; Stephanie O M Dyke; Johan T den Dunnen; Helen V Firth; Richard A Gibbs; Marta Girdea; Michael Gonzalez; Melissa A Haendel; Ada Hamosh; Ingrid A Holm; Lijia Huang; Matthew E Hurles; Ben Hutton; Joel B Krier; Andriy Misyura; Christopher J Mungall; Justin Paschall; Benedict Paten; Peter N Robinson; François Schiettecatte; Nara L Sobreira; Ganesh J Swaminathan; Peter E Taschner; Sharon F Terry; Nicole L Washington; Stephan Züchner; Kym M Boycott; Heidi L Rehm
Journal:  Hum Mutat       Date:  2015-10       Impact factor: 4.878

3.  Toward Global Biobank Integration by Implementation of the Minimum Information About BIobank Data Sharing (MIABIS 2.0 Core).

Authors:  Roxana Merino-Martinez; Loreana Norlin; David van Enckevort; Gabriele Anton; Simone Schuffenhauer; Kaisa Silander; Linda Mook; Petr Holub; Raffael Bild; Morris Swertz; Jan-Eric Litton
Journal:  Biopreserv Biobank       Date:  2016-03-15       Impact factor: 2.300

Review 4.  Rules for processing genetic data for research purposes in view of the new EU General Data Protection Regulation.

Authors:  Mahsa Shabani; Pascal Borry
Journal:  Eur J Hum Genet       Date:  2017-11-29       Impact factor: 4.246

5.  Launch of an Infrastructure for Health Research: BBMRI-ERIC.

Authors:  Jan-Eric Litton
Journal:  Biopreserv Biobank       Date:  2018-05-21       Impact factor: 2.300

6.  The European Genome-phenome Archive of human data consented for biomedical research.

Authors:  Ilkka Lappalainen; Jeff Almeida-King; Vasudev Kumanduri; Alexander Senf; John Dylan Spalding; Saif Ur-Rehman; Gary Saunders; Jag Kandasamy; Mario Caccamo; Rasko Leinonen; Brendan Vaughan; Thomas Laurent; Francis Rowland; Pablo Marin-Garcia; Jonathan Barker; Petteri Jokinen; Angel Carreño Torres; Jordi Rambla de Argila; Oscar Martinez Llobet; Ignacio Medina; Marc Sitges Puy; Mario Alberich; Sabela de la Torre; Arcadi Navarro; Justin Paschall; Paul Flicek
Journal:  Nat Genet       Date:  2015-07       Impact factor: 38.330

7.  BBMRI-ERIC Directory: 515 Biobanks with Over 60 Million Biological Samples.

Authors:  Petr Holub; Morris Swertz; Robert Reihs; David van Enckevort; Heimo Müller; Jan-Eric Litton
Journal:  Biopreserv Biobank       Date:  2016-12       Impact factor: 2.300

8.  Federated discovery and sharing of genomic data using Beacons.

Authors:  Marc Fiume; Miroslav Cupak; Stephen Keenan; Jordi Rambla; Sabela de la Torre; Stephanie O M Dyke; Anthony J Brookes; Knox Carey; David Lloyd; Peter Goodhand; Maximilian Haeussler; Michael Baudis; Heinz Stockinger; Lena Dolman; Ilkka Lappalainen; Juha Törnroos; Mikael Linden; J Dylan Spalding; Saif Ur-Rehman; Angela Page; Paul Flicek; Stephen Sherry; David Haussler; Susheel Varma; Gary Saunders; Serena Scollen
Journal:  Nat Biotechnol       Date:  2019-03       Impact factor: 54.908

9.  RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.

Authors:  Hanns Lochmüller; Dorota M Badowska; Rachel Thompson; Nine V Knoers; Annemieke Aartsma-Rus; Ivo Gut; Libby Wood; Tina Harmuth; Andre Durudas; Holm Graessner; Franz Schaefer; Olaf Riess
Journal:  Eur J Hum Genet       Date:  2018-02-27       Impact factor: 4.246

10.  Common ELIXIR Service for Researcher Authentication and Authorisation.

Authors:  Mikael Linden; Michal Prochazka; Ilkka Lappalainen; Dominik Bucik; Pavel Vyskocil; Martin Kuba; Sami Silén; Peter Belmann; Alexander Sczyrba; Steven Newhouse; Ludek Matyska; Tommi Nyrönen
Journal:  F1000Res       Date:  2018-08-06
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  23 in total

1.  Meeting the challenge: Health information technology's essential role in achieving precision medicine.

Authors:  Teresa Zayas-Cabán; Kevin J Chaney; Courtney C Rogers; Joshua C Denny; P Jon White
Journal:  J Am Med Inform Assoc       Date:  2021-06-12       Impact factor: 4.497

Review 2.  The application of artificial neural networks in metabolomics: a historical perspective.

Authors:  Kevin M Mendez; David I Broadhurst; Stacey N Reinke
Journal:  Metabolomics       Date:  2019-10-18       Impact factor: 4.290

Review 3.  Computational analysis of cancer genome sequencing data.

Authors:  Isidro Cortés-Ciriano; Doga C Gulhan; Jake June-Koo Lee; Giorgio E M Melloni; Peter J Park
Journal:  Nat Rev Genet       Date:  2021-12-08       Impact factor: 53.242

4.  The Location of Missense Variants in the Human GIP Gene Is Indicative for Natural Selection.

Authors:  Peter Lindquist; Lærke Smidt Gasbjerg; Jacek Mokrosinski; Jens Juul Holst; Alexander Sebastian Hauser; Mette Marie Rosenkilde
Journal:  Front Endocrinol (Lausanne)       Date:  2022-06-29       Impact factor: 6.055

Review 5.  A compendium of mutational cancer driver genes.

Authors:  Francisco Martínez-Jiménez; Ferran Muiños; Inés Sentís; Jordi Deu-Pons; Iker Reyes-Salazar; Claudia Arnedo-Pac; Loris Mularoni; Oriol Pich; Jose Bonet; Hanna Kranas; Abel Gonzalez-Perez; Nuria Lopez-Bigas
Journal:  Nat Rev Cancer       Date:  2020-08-10       Impact factor: 60.716

Review 6.  Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example.

Authors:  Bram Peter Prins; Liis Leitsalu; Katri Pärna; Krista Fischer; Andres Metspalu; Toomas Haller; Harold Snieder
Journal:  J Pers Med       Date:  2021-04-29

7.  DriverDBv3: a multi-omics database for cancer driver gene research.

Authors:  Shu-Hsuan Liu; Pei-Chun Shen; Chen-Yang Chen; An-Ni Hsu; Yi-Chun Cho; Yo-Liang Lai; Fang-Hsin Chen; Chia-Yang Li; Shu-Chi Wang; Ming Chen; I-Fang Chung; Wei-Chung Cheng
Journal:  Nucleic Acids Res       Date:  2020-01-08       Impact factor: 16.971

8.  Genomic data sharing in Europe is stumbling-Could a code of conduct prevent its fall?

Authors:  Fruzsina Molnár-Gábor; Jan O Korbel
Journal:  EMBO Mol Med       Date:  2020-02-18       Impact factor: 12.137

9.  Untangling Data in Precision Oncology - A Model for Chronic Diseases?

Authors:  Xosé M Fernández
Journal:  Yearb Med Inform       Date:  2020-08-21

10.  Connecting data, tools and people across Europe: ELIXIR's response to the COVID-19 pandemic.

Authors:  Niklas Blomberg; Katharina B Lauer
Journal:  Eur J Hum Genet       Date:  2020-05-15       Impact factor: 4.246

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