Ten quick tips for building FAIR workflows.

Autor: Casper de Visser, Lennart F Johansson, Purva Kulkarni, Hailiang Mei, Pieter Neerincx, K Joeri van der Velde, Péter Horvatovich, Alain J van Gool, Morris A Swertz, Peter A C 't Hoen, Anna Niehues

Publikováno v: PLoS Computational Biology, Vol 19, Iss 9, p e1011369 (2023)

Research data is accumulating rapidly and with it the challenge of fully reproducible science. As a consequence, implementation of high-quality management of scientific data has become a global priority. The FAIR (Findable, Accesible, Interoperable a

Externí odkaz: https://doaj.org/article/6039046911a84898983f854846d253c9

No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

Autor: Edgar T Hoorntje, Anna Posafalvi, Petros Syrris, K Joeri van der Velde, Marieke C Bolling, Alexandros Protonotarios, Ludolf G Boven, Nuria Amat-Codina, Judith A Groeneweg, Arthur A Wilde, Nara Sobreira, Hugh Calkins, Richard N W Hauer, Marcel F Jonkman, William J McKenna, Perry M Elliott, Richard J Sinke, Maarten P van den Berg, Stephen P Chelko, Cynthia A James, J Peter van Tintelen, Daniel P Judge, Jan D H Jongbloed

Publikováno v: PLoS ONE, Vol 13, Iss 8, p e0203078 (2018)

AIMS:Likely pathogenic/pathogenic variants in genes encoding desmosomal proteins play an important role in the pathophysiology of arrhythmogenic right ventricular cardiomyopathy (ARVC). However, for a substantial proportion of ARVC patients, the gene

Externí odkaz: https://doaj.org/article/8c4c11f0bd934c179abf128780e3a5e2

10 simple rules for building FAIR workflows

Autor: Casper de Visser, Lennart F. Johansson, Purva Kulkarni, Hailiang Mei, Pieter Neerincx, K. Joeri van der Velde, Péter Horvatovich, Alain J. van Gool, Morris A Swertz, Peter A.C. 't Hoen, Anna Niehues

Research data is accumulating rapidly, and with it the challenge of irreproducible science. As a consequence, implementation of high quality management of scientific data has become a global priority. The FAIR (Findable, Accesible, Interoperable and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c2ad40cc4832ab88c242ad93763744c

Validation of New Gene Variant Classification Methods: a Field-Test in Diagnostic Cardiogenetics

Autor: Mohamed Z. Alimohamed, Helga Westers, Yvonne J. Vos, K. Joeri Van der Velde, Rolf H. Sijmons, Paul A. Van der Zwaag, Birgit Sikkema-Raddatz, Jan D. H. Jongbloed

Publikováno v: Frontiers in Genetics, 13:824510. Frontiers Media S.A.

Background: In the molecular genetic diagnostics of Mendelian disorders, solutions are needed for the major challenge of dealing with the large number of variants of uncertain significance (VUSs) identified using next-generation sequencing (NGS). Rec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0065a92f315c33788c5399fd0eac57d
https://doi.org/10.3389/fgene.2022.824510

Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries

Autor: Bruna dos Santos Vieira, César H. Bernabé, Shuxin Zhang, Haitham Abaza, Nirupama Benis, Alberto Cámara, Ronald Cornet, Clémence M. A. Le Cornec, Peter A. C. ’t Hoen, Franz Schaefer, K. Joeri van der Velde, Morris A. Swertz, Mark D. Wilkinson, Annika Jacobsen, Marco Roos

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 17(1):436. BioMed Central
Orphanet journal of rare diseases, 17(1):436. BMC
Orphanet Journal of Rare Diseases, 17, 1
Orphanet Journal of Rare Diseases, 17
Orphanet Journal of Rare Diseases, 17(1). Springer Science and Business Media {LLC}

Introduction Rare disease patient data are typically sensitive, present in multiple registries controlled by different custodians, and non-interoperable. Making these data Findable, Accessible, Interoperable, and Reusable (FAIR) for humans and machin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::435aeb2ba646bc38d23f281c915014a1