David van Enckevort
David van Enckevort
University Medical Center Groningen
Verifierad e-postadress på umcg.nl
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Whole-genome sequence variation, population structure and demographic history of the Dutch population
LC Francioli, A Menelaou, SL Pulit, F Van Dijk, PF Palamara, CC Elbers, ...
Nature genetics 46 (8), 818, 2014
5422014
The Genome of the Netherlands: design, and project goals
DI Boomsma, C Wijmenga, EP Slagboom, MA Swertz, LC Karssen, ...
European Journal of Human Genetics 22 (2), 221-227, 2014
2422014
Improved imputation quality of low-frequency and rare variants in European samples using the ‘Genome of The Netherlands’
P Deelen, A Menelaou, EM Van Leeuwen, A Kanterakis, F Van Dijk, ...
European Journal of Human Genetics 22 (11), 1321-1326, 2014
942014
A high-quality human reference panel reveals the complexity and distribution of genomic structural variants
JY Hehir-Kwa, T Marschall, WP Kloosterman, LC Francioli, JA Baaijens, ...
Nature communications 7 (1), 1-10, 2016
662016
Population-specific genotype imputations using minimac or IMPUTE2
EM Van Leeuwen, A Kanterakis, P Deelen, MV Kattenberg, PE Slagboom, ...
Nature protocols 10 (9), 1285-1296, 2015
632015
BBMRI-ERIC directory: 515 biobanks with over 60 million biological samples
P Holub, M Swertz, R Reihs, D van Enckevort, H Müller, JE Litton
Biopreservation and biobanking 14 (6), 559-562, 2016
522016
Toward global biobank integration by implementation of the minimum information about biobank data sharing (MIABIS 2.0 Core)
R Merino-Martinez, L Norlin, D van Enckevort, G Anton, S Schuffenhauer, ...
Biopreservation and biobanking 14 (4), 298-306, 2016
512016
Recommendations for improving the quality of rare disease registries
Y Kodra, J Weinbach, M Posada-de-la-Paz, A Coi, S Lemonnier, ...
International journal of environmental research and public health 15 (8), 1644, 2018
452018
Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels
EM Van Leeuwen, LC Karssen, J Deelen, A Isaacs, C Medina-Gomez, ...
Nature communications 6 (1), 1-6, 2015
372015
A framework for the detection of de novo mutations in family-based sequencing data
LC Francioli, M Cretu-Stancu, KV Garimella, M Fromer, WP Kloosterman, ...
European Journal of Human Genetics 25 (2), 227-233, 2017
242017
State-of-the-art and future challenges in the integration of biobank catalogues
H Müller, R Reihs, K Zatloukal, F Jeanquartier, R Merino-Martinez, ...
Smart Health, 261-273, 2015
212015
MECP2 variation in Rett syndrome—An overview of current coverage of genetic and phenotype data within existing databases
GS Townend, F Ehrhart, HJ van Kranen, M Wilkinson, A Jacobsen, ...
Human mutation 39 (7), 914-924, 2018
172018
MOLGENIS/connect: a system for semi-automatic integration of heterogeneous phenotype data with applications in biobanks
C Pang, D van Enckevort, M de Haan, F Kelpin, J Jetten, D Hendriksen, ...
Bioinformatics 32 (14), 2176-2183, 2016
122016
Privacy-preserving linkage of genomic and clinical data sets
DB Baker, BM Knoppers, M Phillips, D van Enckevort, P Kaufmann, ...
IEEE/ACM transactions on computational biology and bioinformatics 16 (4 …, 2018
102018
MOLGENIS research: advanced bioinformatics data software for non-bioinformaticians
KJ van der Velde, F Imhann, B Charbon, C Pang, D van Enckevort, ...
Bioinformatics 35 (6), 1076-1078, 2019
92019
OSSE Goes FAIR–Implementation of the FAIR Data Principles for an Open-Source Registry for Rare Diseases
J Schaaf, D Kadioglu, J Goebel, CA Behrendt, M Roos, D van Enckevort, ...
German Medical Data Sciences: A Learning Healthcare System, 209-213, 2018
92018
Integration of EGA secure data access into Galaxy
Y Hoogstrate, C Zhang, A Senf, J Bijlard, S Hiltemann, D van Enckevort, ...
F1000Research 5, 2016
52016
Systematically linking tranSMART, Galaxy and EGA for reusing human translational research data
C Zhang, J Bijlard, C Staiger, S Scollen, D van Enckevort, Y Hoogstrate, ...
F1000Research 6, 2017
42017
Overview of a suite of middle-ware services for implementing FAIR data principles
M Thompson, L Bonino, MD Wilkinson, R Kaliyaperumal, K Burger, ...
CEUR Workshop Proceedings 2042, 2017
32017
BiobankUniverse: automatic matchmaking between datasets for biobank data discovery and integration
C Pang, F Kelpin, D van Enckevort, N Eklund, K Silander, D Hendriksen, ...
Bioinformatics 33 (22), 3627-3634, 2017
22017
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