The Genome of the Netherlands: design, and project goals

Within the Netherlands a national network of biobanks has been established (Biobanking and Biomolecular Research Infrastructure-Netherlands (BBMRI-NL)) as a national node of the European BBMRI. One of the aims of BBMRI-NL is to enrich biobanks with different types of molecular and phenotype data. Here, we describe the Genome of the Netherlands (GoNL), one of the projects within BBMRI-NL. GoNL is a whole-genome-sequencing project in a representative sample consisting of 250 trio-families from all provinces in the Netherlands, which aims to characterize DNA sequence variation in the Dutch popula... Mehr ...

Verfasser: Boomsma, DI
Wijmenga, C
Slagboom, EP
Swertz, MA
Karssen, Lennart
Abdellaoui, A
Ye, K
Guryev, V
Vermaat, M
Dijk, Femke
Francioli, LC
Hottenga, JJ (Jouke Jan)
Laros, JFJ
Li, QB
Li, YR
Cao, HZ
Chen, RY
Du, YP
Li, N (Nan)
Cao, SJ
van Setten, J
Menelaou, A
Pulit, SL
Hehir-Kwa, JY
Beekman, M
Elbers, CC
Byelas, H
de Craen, AJM
Deelen, P
Dijkstra, M
Dunnen, JT
de Knijff, P
Houwing-Duistermaat, J
Koval, Slavik
Estrada Gil, Karol
Hofman, Bert
Kanterakis, A
van Enckevort, D
Mai, HL
Kattenberg, M
Leeuwen, Elisa
Neerincx, PBT
Oostra, Ben
Rivadeneira, Fernando
Suchiman, EHD
Uitterlinden, André
Willemsen, G
Wolffenbuttel, BH
Wang, Johnny
de Bakker, PIW
van Ommen, GJ
Duijn, Cornelia
Dokumenttyp: Artikel
Erscheinungsdatum: 2014
Reihe/Periodikum: Boomsma , DI , Wijmenga , C , Slagboom , EP , Swertz , MA , Karssen , L , Abdellaoui , A , Ye , K , Guryev , V , Vermaat , M , Dijk , F , Francioli , LC , Hottenga , JJ , Laros , JFJ , Li , QB , Li , YR , Cao , HZ , Chen , RY , Du , YP , Li , N , Cao , SJ , van Setten , J , Menelaou , A , Pulit , SL , Hehir-Kwa , JY , Beekman , M , Elbers , CC , Byelas , H , de Craen , AJM , Deelen , P , Dijkstra , M , Dunnen , JT , de Knijff , P , Houwing-Duistermaat , J , Koval , S , Estrada Gil , K , Hofman , B , Kanterakis , A , van Enckevort , D , Mai , HL , Kattenberg , M , Leeuwen , E , Neerincx , PBT , Oostra , B , Rivadeneira , F , Suchiman , EHD , Uitterlinden , A , Willemsen , G , Wolffenbuttel , BH , Wang , J , de Bakker , PIW , van Ommen , GJ & Duijn , C 2014 , ' The Genome of the Netherlands: design, and project goals ' , European Journal of Human Genetics , vol. 22 , no. 2 , pp. 221-227 . https://doi.org/10.1038/ejhg.2013.118
Schlagwörter: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC029601 / name=EMC MGC-02-96-01 / /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM013909A / name=EMC MM-01-39-09-A / /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016402 / name=EMC NIHES-01-64-02
Sprache: unknown
Permalink: https://search.fid-benelux.de/Record/base-29208228
Datenquelle: BASE; Originalkatalog
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Link(s) : https://pure.eur.nl/en/publications/f5aac076-e4f8-4f25-90ac-28fb141bff4a

Within the Netherlands a national network of biobanks has been established (Biobanking and Biomolecular Research Infrastructure-Netherlands (BBMRI-NL)) as a national node of the European BBMRI. One of the aims of BBMRI-NL is to enrich biobanks with different types of molecular and phenotype data. Here, we describe the Genome of the Netherlands (GoNL), one of the projects within BBMRI-NL. GoNL is a whole-genome-sequencing project in a representative sample consisting of 250 trio-families from all provinces in the Netherlands, which aims to characterize DNA sequence variation in the Dutch population. The parent-offspring trios include adult individuals ranging in age from 19 to 87 years (mean = 53 years; SD = 16 years) from birth cohorts 1910-1994. Sequencing was done on blood-derived DNA from uncultured cells and accomplished coverage was 14-15x. The family-based design represents a unique resource to assess the frequency of regional variants, accurately reconstruct haplotypes by family-based phasing, characterize short indels and complex structural variants, and establish the rate of de novo mutational events. GoNL will also serve as a reference panel for imputation in the available genome-wide association studies in Dutch and other cohorts to refine association signals and uncover population-specific variants. GoNL will create a catalog of human genetic variation in this sample that is uniquely characterized with respect to micro-geographic location and a wide range of phenotypes. The resource will be made available to the research and medical community to guide the interpretation of sequencing projects. The present paper summarizes the global characteristics of the project.