Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels

Autor: Van Leeuwen, EM, Karssen, LC, Deelen, J, Isaacs, A, Medina-Gomez, C, Mbarek, H, Kanterakis, A, Trompet, S, Postmus, I, Verweij, N, Van Enckevort, DJ, Huffman, JE, White, CC, Feitosa, MF, Bartz, TM, Manichaikul, A, Joshi, PK, Peloso, GM, Deelen, P, Van Dijk, F, Willemsen, G, De Geus, EJ, Milaneschi, Y, Penninx, BWJH, Francioli, LC, Menelaou, A, Pulit, SL, Rivadeneira, F, Hofman, A, Oostra, BA, Franco, OH, Leach, IM, Beekman, M, De Craen, AJM, Uh, HW, Trochet, H, Hocking, LJ, Porteous, DJ, Sattar, N, Packard, CJ, Buckley, BM, Brody, JA, Bis, JC, Rotter, JI, Mychaleckyj, JC, Campbell, H, Duan, Q, Lange, LA, Wilson, JF, Hayward, C, Polasek, O, Vitart, V, Rudan, I, Wright, AF, Rich, SS, Psaty, BM, Borecki, IB, Kearney, PM, Stott, DJ, Cupples, LA, Jukema, JW, Van Der Harst, P, Sijbrands, EJ, Hottenga, JJ, Uitterlinden, AG, Swertz, MA, Van Ommen, GJB, De Bakker, PIW, Eline Slagboom, P, Boomsma, DI, Wijmenga, C, Van Duijn, CM, Neerincx, PBT, Elbers, CC, Palamara, PF, Peer, I, Abdellaoui, A, Kloosterman, WP, Van Oven, M, Vermaat, M, Li, M, Laros, JFJ, Stoneking, M, De Knijff, P, Kayser, M, Veldink, JH, Van Den Berg, LH, Byelas, H, Den Dunnen, JT, Dijkstra, M, Amin, N, Van Der Velde, KJ, Van Setten, J

Publikováno v: Van Leeuwen, EM; Karssen, LC; Deelen, J; Isaacs, A; Medina-Gomez, C; Mbarek, H; et al.(2015). Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels. Nature Communications, 6. doi: 10.1038/ncomms7065. UCLA: Retrieved from: http://www.escholarship.org/uc/item/0pf7030w

© 2015 Macmillan Publishers Limited. All rights reserved. Variants associated with blood lipid levels may be population-specific. To identify low-frequency variants associated with this phenotype, population-specific reference panels may be used. He

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::40fe9f479300706910e75022cbf7bdca
http://www.escholarship.org/uc/item/0pf7030w

FAIR Data Cube, a FAIR data infrastructure for integrated multi-omics data analysis.

Autor: Liao X; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, The Netherlands. XiaoFeng.Liao@radboudumc.nl., Ederveen THA; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, The Netherlands., Niehues A; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, The Netherlands., de Visser C; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, The Netherlands., Huang J; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, The Netherlands., Badmus F; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, The Netherlands., Doornbos C; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, The Netherlands., Orlova Y; SURF, Science Park 140, 1098 XG, Amsterdam, The Netherlands., Kulkarni P; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, The Netherlands.; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van der Velde KJ; Genomics Coordination Center, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands., Swertz MA; Genomics Coordination Center, University of Groningen and University Medical Center Groningen, Groningen, The Netherlands., Brandt M; SURF, Science Park 140, 1098 XG, Amsterdam, The Netherlands., van Gool AJ; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., 't Hoen PAC; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, The Netherlands. Peter-Bram.tHoen@radboudumc.nl.

Publikováno v: Journal of biomedical semantics [J Biomed Semantics] 2024 Dec 28; Vol. 15 (1), pp. 20. Date of Electronic Publication: 2024 Dec 28.

An interconnected data infrastructure to support large-scale rare disease research.

Autor: Johansson LF; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Laurie S; Centro Nacional de Análisis Genómico, C/Baldiri Reixac 4, 08028, Barcelona, Spain.; Universitat de Barcelona (UB), Gran Via de les Corts Catalanes, 585, L'Eixample, 08007, Barcelona, Spain., Spalding D; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CV10 1SD, UK., Gibson S; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Ruvolo D; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Thomas C; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CV10 1SD, UK., Piscia D; Centro Nacional de Análisis Genómico, C/Baldiri Reixac 4, 08028, Barcelona, Spain.; Universitat de Barcelona (UB), Gran Via de les Corts Catalanes, 585, L'Eixample, 08007, Barcelona, Spain., de Andrade F; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Been G; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Bijlsma M; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Brunner H; Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen, 6525 GA, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, P.O.Box 9103, Nijmegen, 6500 HD, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, P. Debyelaan 25, Maastricht, 6229 HX, The Netherlands., Cimerman S; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Dizjikan FY; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstraße 7, Tübingen 72076, Germany., Fernandez M; Centro Nacional de Análisis Genómico, C/Baldiri Reixac 4, 08028, Barcelona, Spain.; Universitat de Barcelona (UB), Gran Via de les Corts Catalanes, 585, L'Eixample, 08007, Barcelona, Spain., Freeberg M; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CV10 1SD, UK., van de Geijn GJ; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Kanninga R; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Maddi V; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Mehtarizadeh M; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Neerincx P; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Ossowski S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstraße 7, Tübingen 72076, Germany.; Institute for Bioinformatics and Medical Informatics (IBMI), University of Tübingen, Geschwister-Scholl-Platz, Tübingen 72074, Germany., Rath A; INSERM, US-14 Orphanet, 96 rue Didot, Paris 75014, France., Roelofs-Prins D; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Stok-Benjamins M; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., van der Velde KJ; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Veal C; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., van der Vries G; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Wadsley M; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Warren G; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK., Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstraße 7, Tübingen 72076, Germany., Keane T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CV10 1SD, UK., Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Calwerstraße 7, Tübingen 72076, Germany.; Centre for Rare Diseases, University of Tübingen, Geschäftsstelle Eisenbahnstraße 63, Tübingen 72072, Germany., Beltran S; Centro Nacional de Análisis Genómico, C/Baldiri Reixac 4, 08028, Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Diagonal, 643, 08028, Barcelona, Spain., Swertz MA; Department of Genetics, University of Groningen, University Medical Center Groningen, HPC CB50, P.O. Box 30001, Groningen, 9700 RB, The Netherlands., Brookes AJ; Department of Genetics, Genomics and Cancer Sciences, University of Leicester, University Road, Leicester, Leicester, LE1 7RH, UK.

Publikováno v: GigaScience [Gigascience] 2024 Jan 02; Vol. 13.

FAIR Genomes metadata schema promoting Next Generation Sequencing data reuse in Dutch healthcare and research.

Autor: van der Velde KJ; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands.; University of Groningen and University Medical Center Groningen, Department of Genetics, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., Singh G; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Center for Molecular and Biomolecular Informatics, Geert Grooteplein 28, 6525 GA, Nijmegen, The Netherlands., Kaliyaperumal R; Leiden University Medical Center, Department of Human Genetics, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands., Liao X; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Center for Molecular and Biomolecular Informatics, Geert Grooteplein 28, 6525 GA, Nijmegen, The Netherlands., de Ridder S; Amsterdam University Medical Center, University of Amsterdam, Department of Pathology, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands., Rebers S; The Netherlands Cancer Institute, Division of Molecular Pathology, Plesmanlaan 121, 1066 CX, Amsterdam, The Netherlands., Kerstens HHD; Prinses Máxima Center for Pediatric Oncology, Kemmeren group, Heidelberglaan 25, 3584 CS, Utrecht, The Netherlands., de Andrade F; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., van Reeuwijk J; Radboud University Medical Center, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands., De Gruyter FE; University Medical Center Utrecht, Department of Genetics, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Hiltemann S; Erasmus Medical Center, Department of Pathology, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., Ligtvoet M; Nictiz - Dutch competence centre for electronic exchange of health and care information, Oude Middenweg 55, 2491 AC, The Hague, The Netherlands., Weiss MM; Radboud University Medical Center, Department of Human Genetics, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands., van Deutekom HWM; University Medical Center Utrecht, Department of Genetics, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Jansen AML; University Medical Center Utrecht, Department of Pathology, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands., Stubbs AP; Erasmus Medical Center, Department of Pathology, Doctor Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands., Vissers LELM; Radboud University Medical Center, Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Geert Grooteplein 10, 6525 GA, Nijmegen, The Netherlands., Laros JFJ; Leiden University Medical Center, Department of Human Genetics, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.; Leiden University Medical Center, Department of Clinical Genetics, Einthovenweg 20, 2333 ZC, Leiden, The Netherlands.; Rijksinstituut voor Volksgezondheid en Milieu, Antonie van Leeuwenhoeklaan 9, 3721 MA, Bilthoven, The Netherlands., van Enckevort E; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., Stemkens D; VSOP - Patient Alliance for Rare and Genetic Diseases The Netherlands, Koninginnelaan 23, 3762 DA, Soest, The Netherlands., 't Hoen PAC; Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Center for Molecular and Biomolecular Informatics, Geert Grooteplein 28, 6525 GA, Nijmegen, The Netherlands., Beliën JAM; Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Department of Pathology, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands., van Gijn ME; University of Groningen and University Medical Center Groningen, Department of Genetics, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands., Swertz MA; University of Groningen and University Medical Center Groningen, Genomics Coordination Center, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands. m.a.swertz@rug.nl.; University of Groningen and University Medical Center Groningen, Department of Genetics, Antonius Deusinglaan 1, 9713 AV, Groningen, The Netherlands. m.a.swertz@rug.nl.

Publikováno v: Scientific data [Sci Data] 2022 Apr 13; Vol. 9 (1), pp. 169. Date of Electronic Publication: 2022 Apr 13.

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

Autor: Alimohamed MZ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.; Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar-es-Salaam, Tanzania.; Department of Research and Training, Shree Hindu Mandal Hospital, Dar-es-salaam, Tanzania.; Tanzania Human Genetics Organization, Groningen, Netherlands., Westers H; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Vos YJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Van der Velde KJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Sijmons RH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Van der Zwaag PA; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Sikkema-Raddatz B; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands., Jongbloed JDH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, Netherlands.

Publikováno v: Frontiers in genetics [Front Genet] 2022 Mar 01; Vol. 13, pp. 824510. Date of Electronic Publication: 2022 Mar 01 (Print Publication: 2022).