المؤلفون: 't Hoen, Peter A.C., van der Velde, K.J., Ojstersek, Milan, Liao, XiaoFeng, Kovac, Jernej, Buske, Orion

المصدر: ESHG, European Society of Human Genetics, Berlin, 1-4 June 2024

مصطلحات موضوعية: FAIR, Genomics, Infrastructure, Federated Analysis

Relation: https://doi.org/10.5281/zenodo.11399684; https://doi.org/10.5281/zenodo.11399685; oai:zenodo.org:11399685

الاتاحة: https://doi.org/10.5281/zenodo.11399685

المؤلفون: Li, Shuang, Van Der Velde, K.J., De Ridder, Dick, Van Dijk, Aalt D.J., Soudis, Dimitrios, Zwerwer, Leslie R., Deelen, Patrick, Hendriksen, Dennis, Charbon, Bart, Van Gijn, Marielle E., Abbott, Kristin, Sikkema-Raddatz, Birgit, Van Diemen, Cleo C., Kerstjens-Frederikse, Wilhelmina S., Sinke, Richard J., Swertz, Morris A.

المصدر: Genome Medicine 12 (2020) 1 ; ISSN: 1756-994X

مصطلحات موضوعية: Allele frequency, Clinical genetics, Exome sequencing, Genome diagnostics, Machine learning, Molecular consequence, Variant pathogenicity prediction

وصف الملف: application/pdf

Relation: https://edepot.wur.nl/531069

الاتاحة: https://research.wur.nl/en/publications/capice-a-computational-method-for-consequence-agnostic-pathogenic
https://doi.org/10.1186/s13073-020-00775-w

المؤلفون: Nersisyan, L. (Lilit), Nikoghosyan, M. (Maria), Arakelyan, A. (Arsen), Francioli, L.C. (Laurent), Menelaou, A. (Androniki), Pulit, S.L. (Sara), Elbers, C.C. (Clara), Kloosterman, W.P. (Wigard), Setten, J. (Jessica) van, Nijman, I.J. (Isaac ), Renkens, I. (Ivo), de Bakker, P.I.W. (Paul I. W.), Dijk, F. (Freerk) van, Neerincx, P.B.T. (Pieter B T), Deelen, P. (Patrick), Kanterakis, A. (Alexandros), Dijkstra, M. (Martijn), Byelas, H. (Heorhiy), van der Velde, K.J. (K. Joeri), Platteel, I. (Inge), Swertz, M.A. (Morris A.), Wijmenga, C. (Cisca), Palamara, P.F. (Pier Francesco), Peer, I. (Itsik), Ye, K. (Kai), Lameijer, E.-W. (Eric-Wubbo), Moed, H. (Heleen), Beekman, M. (Marian), Craen, A.J. (Anton) de, Suchiman, H.E.D. (H. Eka D.), Slagboom, P.E. (Eline), Guryev, V. (Victor), Abdellaoui, A. (Abdel), Hottenga, J.J. (Jouke Jan), Kattenberg, V.M. (Mathijs), Willemsen, G.A.H.M. (Gonneke), Boomsma, D.I. (Dorret), van Leeuwen, E.M. (Elisabeth M.), Karssen, L.C. (Lennart), Amin, N. (Najaf), Rivadeneira, F. (Fernando), Isaacs, A.J. (Aaron), Hofman, A. (Albert), Uitterlinden, A.G. (André), Duijn, C.M. (Cornelia) van, Oven, M. (Mannis) van, Kayser, M.H. (Manfred), Vermaat, M. (Martijn), Laros, J.F.J. (Jeroen F.), Dunnen, J.T. (Johan) den, Enckevort, D. (David) van, Mei, S. (Shan), Li, M. (Mingkun), Stoneking, M. (Mark), Schaik, B.D.C. (Barbera) van, Bot, J.J. (Jan), Marschall, T. (Tanja), Schönhuth, A. (Alexander), Hehir-Kwa, J. (Jayne), Handsaker, R.E. (Robert), Polak, P., Sohail, M. (Mashaal), Vuzman, D. (Dana), Estrada Gil, K. (Karol), McCarroll, S.A. (Steve), Sunyaev, S.R. (Shamil), Hormozdiari, F. (Fereydoun), Koval, V. (Vyacheslav), Medina-Gomez, M.C. (Carolina), Oostra, B.A. (Ben), Veldink, J.H. (Jan), Berg, L.H. (Leonard) van den, Pitts, S.J. (Steven J.), Potluri, S. (Shobha), Sundar, P. (Purnima), Cox, D.R. (David), Knijff, P. (Peter) de, Li, Q. (Qibin), Li, Y. (Yingrui), Du, Y. (Yuanping), Chen, R. (Ruoyan), Cao, H. (Hongzhi), Wang, J. (Jun), Li, N. (Ning), Cao, S. (Sujie), Bovenberg, J.A. (Jasper), Ommen, G.J. (Gert) van

المصدر: Scientific Reports vol. 9 no. 1

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/122724; urn:hdl:1765/122724

الاتاحة: http://repub.eur.nl/pub/122724
https://doi.org/10.1038/s41598-019-55109-7

المؤلفون: Dhekne, H.S. (Herschel), Pylypenko, O. (Olena), Overeem, A.W. (Arend W.), Ferreira, R.J. (Rosaria J.), van der Velde, K.J. (K. Joeri), Rings, E.H.H.M. (Edmond), Posovszky, C. (Carsten), Swertz, M.A. (Morris A.), Houdusse, A. (Anne), IJzendoorn, S.C.D. (Sven) van

المصدر: Human Mutation

مصطلحات موضوعية: Congenital diarrheal diseases, Enteropathy, Microvillus inclusion disease, Munc18-2, MYO5B, Myosin VB, STX3, STXBP2, Syntaxin-3

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/104184; urn:hdl:1765/104184

الاتاحة: http://repub.eur.nl/pub/104184
https://doi.org/10.1002/humu.23386

المؤلفون: Zych, Konrad, Snoek, Basten L., Elvin, Mark, Rodriguez, Miriam, Van Der Velde, K.J., Arends, Danny, Westra, Harm-Jan, Swertz, Morris A., Poulin, Gino, Kammenga, Jan E., Breitling, Rainer, Jansen, Ritsert C., Li, Yang

المصدر: PLoS ONE 12 (2017) 2 ; ISSN: 1932-6203

مصطلحات موضوعية: Life Science

وصف الملف: application/pdf

Relation: https://edepot.wur.nl/408846

الاتاحة: https://research.wur.nl/en/publications/regenotyper-detecting-mislabeled-samples-in-genetic-data
https://doi.org/10.1371/journal.pone.0171324

المؤلفون: Francioli, L.C., Polak, P.P., Koren, A., Menelaou, A., Chun, S., Renkens, I., van Duijn, C.M., Swertz, M.A., Wijmenga, C., van Ommen, G.J., Slagboom, P.E., Boomsma, D.I., Ye, K., Guryev, V., Arndt, P.F., Kloosterman, W.P., Bakker, P.I.W., Sunyaev, S.R., Dijk, F., Neerincx, P.B.T., Pulit, S.L., Deelen, P., Elbers, C.C., Palamara, P.F., Pe'er, I., Abdellaoui, A., van Oven, M., Vermaat, M., Li, M., Laros, J.F.J., Stoneking, M., de Knijff, P., Kayser, M., Veldink, J.H., Van den Berg, L.H., Byelas, H., den Dunnen, J.T., Dijkstra, M., Amin, N., van der Velde, K.J., Hottenga, J.J., van Setten, J., van Leeuwen, E.M., Kanterakis, A., Kattenberg, V.M., Karssen, L.C., van Schaik, B.D.C., Bot, J., Nijman, I.J., van Enckevort, D., Mei, H., Koval, V., Estrada, K., Medina-Gomez, C., Lameijer, E.W., Moed, M.H., Hehir-Kwa, J.Y., Handsaker, R.E., McCarroll, S.A., Vuzman, D., Sohail, M., Hormozdiari, F., Marschall, T., Schönhuth, A., Beekman, M., de Craen, A.J., Suchiman, H.E.D., Hofman, A., Oostra, B., Isaacs, A., Rivadeneira, F., Uitterlinden, A.G., Willemsen, G., Platteel, M., Pitts, S.J., Potluri, S., Sundar, P., Cox, D.R., Li, Q., Li, Y., Du, Y., Chen, R., Cao, H., Li, N., Cao, S., Wang, J., Bovenberg, J.A., Brandsma, M.

المصدر: Francioli , L C , Polak , P P , Koren , A , Menelaou , A , Chun , S , Renkens , I , van Duijn , C M , Swertz , M A , Wijmenga , C , van Ommen , G J , Slagboom , P E , Boomsma , D I , Ye , K , Guryev , V , Arndt , P F , Kloosterman , W P , Bakker , P I W , Sunyaev , S R , Dijk , F , Neerincx , P B T , Pulit , S ....

مصطلحات موضوعية: /dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_, name=Netherlands Twin Register (NTR)

الاتاحة: https://research.vu.nl/en/publications/66af59bc-601b-41a7-be58-fe092af15064
https://doi.org/10.1038/ng.3292
https://hdl.handle.net/1871.1/66af59bc-601b-41a7-be58-fe092af15064

المؤلفون: Zych, K., Li, Y., van der Velde, K.J., Joosen, R.V.L., Ligterink, W., Jansen, R.C., Arends, D.

المصدر: BMC Bioinformatics 16 (2015) ; ISSN: 1471-2105

مصطلحات موضوعية: Computational genomics, Genotyping, QTL mapping, Quantitative genetics, Recombination, SNPs, Tiling arrays

وصف الملف: application/pdf

Relation: https://edepot.wur.nl/360605

الاتاحة: https://research.wur.nl/en/publications/pheno2geno-high-throughput-generation-of-genetic-markers-and-maps
https://doi.org/10.1186/s12859-015-0475-6

المؤلفون: van der Velde, K.J., de Haan, M., Zych, K., Arends, D., Snoek, L.B., Kammenga, J.E., Jansen, R.C., Swertz, M.A., Li, Y.

المصدر: Nucleic acids research 42 (2014) D1 ; ISSN: 0305-1048

مصطلحات موضوعية: caenorhabditis-elegans, environment, genome, genotype, identification, life-history traits, polymorphism, qtl, stress-response, systems biology

وصف الملف: application/pdf

Relation: https://edepot.wur.nl/282612

الاتاحة: https://research.wur.nl/en/publications/wormqtl-hda-web-database-for-linking-human-disease-to-natural-var
https://doi.org/10.1093/nar/gkt1044

المؤلفون: Francioli, L.C., Menelaou, A., Pulit, S.L., Dijk, F., Palamara, P.F., Elbers, C.C., Neerincx, P.B.T., Ye, K., Guryev, V., Kloosterman, W.P., Deelen, P., Abdellaoui, A., van Leeuwen, E., van Oven, M., Vermaat, M., Li, M., Laros, J.F.J., Karssen, L.C., Kanterakis, A., Amin, N., Lameijer, E.W., Kattenberg, V.M., Dijkstra, M., Byelas, H., van Setten, J., van Schaik, B.D.C., Bot, J., Nijman, I.J., Renkens, I., Marschall, T., Schönhuth, A., Hehir-Kwa, J.Y., Handsaker, R.E., Polak, P., Sohail, M., Vuzman, D., Hormozdiari, F., van Enckevort, D., Mei, H., Koval, V., Moed, M.H., van der Velde, K.J., Rivadeneira, F., Estrada, K., Medina-Gomez, C., Isaacs, A., McCarroll, S.A., Beekman, M., de Craen, A.J., Suchiman, H.E.D., Hofman, A., Oostra, B.A., Uitterlinden, A.G., Willemsen, G., Platteel, M., Veldink, J.H., Van den Berg, L.H., Pitts, S.J., Potluri, S., Sundar, P., Cox, D.R., Sunyaev, S.R., den Dunnen, J.T., Stoneking, M., de Knijff, P., Kayser, M., Li, Q., Li, Y., Du, Y., Chen, R., Cao, H., Li, N., Cao, S., Wang, J., Bovenberg, J.A., Pe'er, I., Slagboom, P.E., van Duijn, C.M., Boomsma, D.I., van Ommen, G.J.B, Bakker, P.I.W., Swertz, M., Wijmenga, C.

المصدر: Francioli , L C , Menelaou , A , Pulit , S L , Dijk , F , Palamara , P F , Elbers , C C , Neerincx , P B T , Ye , K , Guryev , V , Kloosterman , W P , Deelen , P , Abdellaoui , A , van Leeuwen , E , van Oven , M , Vermaat , M , Li , M , Laros , J F J , Karssen , L C , Kanterakis , A , Amin , N , Lameijer , E W , Kattenberg , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_, name=Netherlands Twin Register (NTR), /dk/atira/pure/sustainabledevelopmentgoals/life_below_water, name=SDG 14 - Life Below Water

الاتاحة: https://research.vu.nl/en/publications/20ebcf66-2f57-433e-84da-f9b4bdad9754
https://doi.org/10.1038/ng.3021
https://hdl.handle.net/1871.1/20ebcf66-2f57-433e-84da-f9b4bdad9754
http://www.tweelingenregister.org/publicaties

المؤلفون: Snoek, L.B., van der Velde, K.J., Li, Y., Jansen, R.C., Swertz, M.A., Kammenga, J.E.

المصدر: Worm 3 (2014) 1 ; ISSN: 2162-4054

مصطلحات موضوعية: Life Science

وصف الملف: application/pdf

Relation: https://edepot.wur.nl/299867

الاتاحة: https://research.wur.nl/en/publications/worm-variation-made-accessible-take-your-shopping-cart-to-store-l
https://doi.org/10.4161/worm.28357

المؤلفون: Snoek, L.B., van der Velde, K.J., Arends, D., Li, Y., Beyer, A., Elvin, M., Fisher, J., Hajnal, A., Hengartner, M., Poulin, G., Rodriguez Sanchez, M., Schmid, T., Schrimpf, S., Xue, F., Jansen, R.C., Kammenga, J.E., Swertz, M.A.

المصدر: Nucleic acids research 41 (2013) D1 ; ISSN: 0305-1048

مصطلحات موضوعية: c. elegans, environment, genome, genotype, life-history traits, plasticity, platform, polymorphism, qtl, systems biology

وصف الملف: application/pdf

Relation: https://edepot.wur.nl/240738

الاتاحة: https://research.wur.nl/en/publications/wormqtlpublic-archive-and-analysis-web-portal-for-natural-variati
https://doi.org/10.1093/nar/gks1124

المؤلفون: Durrant, M.C., Swertz, M.A., Alberts, R., Arends, D., Möller, S., Mott, R., Prins, J.C.P., van der Velde, K.J., Jansen, R.C., Schughart, K.

المصدر: Briefings in Bioinformatics 13 (2012) 2 ; ISSN: 1467-5463

مصطلحات موضوعية: atherosclerosis, biology, collaborative cross, complex, genes, genomics, men, powerful resource, quantitative trait loci, r/qtl

وصف الملف: application/pdf

Relation: https://edepot.wur.nl/175181

الاتاحة: https://research.wur.nl/en/publications/bioinformatics-tools-and-database-resources-for-systems-genetics-
https://doi.org/10.1093/bib/bbr026

المؤلفون: Arends, D., van der Velde, K.J., Prins, J.C.P., Broman, K.W., Möller, S., Jansen, R.C., Swertz, M.A.

المصدر: Bioinformatics 28 (2012) 7 ; ISSN: 1367-4803

مصطلحات موضوعية: experimental crosses, molgenis, r/qtl

وصف الملف: application/pdf

Relation: https://edepot.wur.nl/197012

الاتاحة: https://research.wur.nl/en/publications/xqtl-workbench-a-scalable-web-environment-for-multi-level-qtl-ana
https://doi.org/10.1093/bioinformatics/bts049

المؤلفون: Li, Y., Breitling, R., Snoek, L.B., van der Velde, K.J., Swertz, M.A., Riksen, J.A.G., Jansen, R.C., Kammenga, J.E.

المصدر: Genetics 186 (2010) ; ISSN: 0016-6731

مصطلحات موضوعية: statistics

وصف الملف: application/pdf

Relation: https://edepot.wur.nl/150806

الاتاحة: https://research.wur.nl/en/publications/global-genetic-robustness-of-the-alternative-splicing-machinery-i
https://doi.org/10.1534/genetics.110.119677

المؤلفون: Arends, D., van der Velde, K.J., Prins, J.C.P., Jansen, R.

مصطلحات موضوعية: Life Science

الاتاحة: https://research.wur.nl/en/publications/user-friendly-cluster-computing-for-qtl-analysis