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by Francioli, Laurent C and Menelaou, Anoniki and Pulit, Sara L and van Dijk, Freerk and Palamara, Pier Francesco and Elbers, Clara C and Neerincx, Pieter B. T and Ye, Kai and Guryev, Victor and Kloosterman, Wigard P and Deelen, Patrick and Abdellaoui, Abdel and van Leeuwen, Elisabeth M and van Oven, Mannis and Vermaat, Martijn and Li, Mingkun and Laros, Jeroen F. J and Karssen, Lennart C and Kanterakis, Alexanos and Amin, Najaf and Hottenga, Jouke Jan and Lameijer, Eric-Wubbo and Kattenberg, Mathijs and Dijkstra, Martijn and Byelas, Heorhiy and van Setten, Jessica and van Schaik, Barbera D. C and Bot, Jan and Nijman, Isaäc J and Renkens, Ivo and Marschall, Tobias and Schönhuth, Alexander and Hehir-Kwa, Jayne Y and Handsaker, Robert E and Polak, Paz and Sohail, Mashaal and Vuzman, Dana and Hormozdiari, Fereydoun and van Enckevort, David and Mei, Hailiang and Koval, Vyacheslav and Moed, Matthijs H and van der Velde, K. Joeri and Rivadeneira, Fernando and Estrada, Karol and Medina-Gomez, Carolina and Isaacs, Aaron and McCarroll, Steven A and Beekman, Marian and de Craen, Anton J. M and Suchiman, H. Eka D and Hofman, Albert and Oostra, Ben and Uitterlinden, Ané G and Willemsen, Gonneke and Platteel, Mathieu and Veldink, Jan H and van den Berg, Leonard H and Pitts, Steven J and Potluri, Shobha and Sundar, Purnima and Cox, David R and Sunyaev, Shamil R and den Dunnen, Johan T and Stoneking, Mark and de Knijff, Peter and Kayser, Manfred and Li, Qibin and Li, Yingrui and Du, Yuanping and Chen, Ruoyan and Cao, Hongzhi and Li, Ning and Cao, Sujie and Wang, Jun and Bovenberg, Jasper A and Pe'er, Itsik and Slagboom, P. Eline and van Duijn, Cornelia M and Boomsma, Dorret I and van Ommen, Gert-Jan B and de Bakker, Paul I. W and Swertz, Morris A and Wijmenga, Cisca and LifeLines Cohort Study and Genome Netherlands Consortium and Genome of the Netherlands Consortium and The Genome of the Netherlands Consortium
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 8, pp. 818 - 825
Journal Article
Journal of Clinical Bioinformatics, ISSN 2043-9113, 2015, Volume 5, Issue Suppl 1, p. S8
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2014, Volume 22, Issue 2, pp. 221 - 227
Journal Article
by Deelen, Patrick and Menelaou, Anoniki and van Leeuwen, Elisabeth M and Kanterakis, Alexanos and van Dijk, Freerk and Medina-Gomez, Carolina and Francioli, Laurent C and Hottenga, Jouke Jan and Karssen, Lennart C and Estrada, Karol and Kreiner-Møller, Eskil and Rivadeneira, Fernando and van Setten, Jessica and Gutierrez-Achury, Javier and Westra, Harm-Jan and Franke, Lude and van Enckevort, David and Dijkstra, Martijn and Byelas, Heorhiy and van Duijn, Cornelia M and de Bakker, Paul I. W and Wijmenga, Cisca and Swertz, Morris A and Neerincx, Pieter B. T and Pulit, Sara L and Elbers, Clara C and Palamara, Pier Francesco and Pe'er, Itsik and Abdellaoui, Abdel and Kloosterman, Wigard P and van Oven, Mannis and Vermaat, Martijn and Li, Mingkun and Laros, Jeroen F. J and Stoneking, Mark and de Knijff, Peter and Kayser, Manfred and Veldink, Jan H and van den Berg, Leonard H and den Dunnen, Johan T and Amin, Najaf and van der Velde, K. Joeri and Kattenberg, Mathijs and van Schaik, Barbera D. C and Bot, Jan and Nijman, Isaäuc J and Mei, Hailiang and Koval, Vyacheslav and Ye, Kai and Lameijer, Eric-Wubbo and Moed, Matthijs H and Hehir-Kwa, Jayne Y and Handsaker, Robert E and Sunyaev, Shamil R and Sohail, Mashaal and Hormozdiari, Fereydoun and Marschall, Tobias and Schönhuth, Alexander and Guryev, Victor and Slagboom, P. Eline and Beekman, Marian B and de Craen, Anton J. M and Suchiman, H. Eka D and Hofman, Albert and van Duijn, Cornelia and Boomsma, Dorret I and Willemsen, Gonneke and Wolffenbuttel, Bruce H and Platteel, Mathieu and Pitts, Steven J and Potluri, Shobha and Cox, David R and Li, Qibin and Li, Yingrui and Du, Yuanping and Chen, Ruoyan and Cao, Hongzhi and Li, Ning and Cao, Sujie and Wang, Jun and Bovenberg, Jasper A and van Ommen, Gertjan B and Genome Netherlands Consortium and Genome of Netherlands Consortium and Genome of the Netherlands Consortium
European journal of human genetics, ISSN 1018-4813, 2014, Volume 22, Issue 11, pp. 1321 - 1326
Journal Article
Human Mutation, ISSN 1059-7794, 07/2018, Volume 39, Issue 7, pp. 914 - 924
Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological problems. In most cases, it results from a loss‐of‐function mutation in the... 
MECP2 | phenotype | databases | genetic variation | FAIR data | Rett syndrome | VARIANTS | HUMANS | BIOBANKS | GENOME | BIOINFORMATICS | GENETICS & HEREDITY | MUTATION DATABASE | Medicine, Experimental | Medical research | Databases | Protein binding | Researchers | Methyl-CpG binding protein | MeCP2 protein | Phenotypic variations | Diagnosis | Mutation | Data bases | Interoperability | Genotypes | CpG islands
Journal Article
Bioinformatics, ISSN 1367-4803, 11/2017, Volume 33, Issue 22, pp. 3627 - 3634
Motivation: Biobanks are indispensable for large-scale genetic/epidemiological studies, yet it remains difficult for researchers to determine which biobanks... 
SAMPLES | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | INFORMATION | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | MIABIS | Original Papers
Journal Article
Bioinformatics, ISSN 1367-4803, 03/2019, Volume 35, Issue 6, pp. 1076 - 1078
Abstract Motivation The volume and complexity of biological data increases rapidly. Many clinical professionals and biomedical researchers without a... 
INTEGRATION | BIG DATA | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Applications Notes
Journal Article
Bioinformatics, ISSN 1367-4803, 07/2016, Volume 32, Issue 14, pp. 2176 - 2183
Motivation: While the size and number of biobanks, patient registries and other data collections are increasing, biomedical researchers still often need to... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | BIOCHEMICAL RESEARCH METHODS | MATHEMATICAL & COMPUTATIONAL BIOLOGY | Computational Biology - methods | Phenotype | Algorithms | Biological Ontologies | Biological Specimen Banks | Humans | Software | Original Papers
Journal Article
Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), ISSN 0302-9743, 2015, Volume 8700, pp. 261 - 273
Journal Article
IEEE/ACM Transactions on Computational Biology and Bioinformatics, ISSN 1545-5963, 07/2019, Volume 16, Issue 4, pp. 1342 - 1348
The capacity to link records associated with the same individual across data sets is a key challenge for data-driven research. The challenge is exacerbated by... 
Couplings | Ethics | Data matching | Law | record linkage | Genomics | privacy-preserving record linkage | privacy | Electronic mail | Bioinformatics | Task analysis | data matching | COMPUTER SCIENCE, INTERDISCIPLINARY APPLICATIONS | MATHEMATICS, INTERDISCIPLINARY APPLICATIONS | BIOCHEMICAL RESEARCH METHODS | STATISTICS & PROBABILITY
Journal Article
Biopreservation and Biobanking, ISSN 1947-5535, 08/2016, Volume 14, Issue 4, pp. 298 - 306
Biobanks are the biological back end of data-driven medicine, but lack standards and generic solutions for interoperability and information harmonization. The... 
MEDICAL LABORATORY TECHNOLOGY | CELL BIOLOGY | Biological Specimen Banks - organization & administration | European Union | Humans | Specimen Handling - standards | Software | Biological Specimen Banks - standards | Databases, Factual | Information Dissemination
Journal Article
International Journal of Environmental Research and Public Health, ISSN 1661-7827, 08/2018, Volume 15, Issue 8, p. 1644
Journal Article