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GoNL Genome of the Netherlands Your name Meeting June 21, 2011.

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Presentation on theme: "GoNL Genome of the Netherlands Your name Meeting June 21, 2011."— Presentation transcript:

1 http://www.nlgenome.com/ http://www.bbmriwiki.nl GoNL Genome of the Netherlands Your name Meeting June 21, 2011

2 http://www.nlgenome.com/ http://www.bbmriwiki.nl GoNL Unique family-based design: 250 trios 230 x 2 parents – 1 offspring 10 x 2 parents – 2 offspring 10 x 2 parents – 1 MZ twin offspring Specifications: Families equally distributed over the Dutch provinces Genomic DNA, paired-end sequencing on HiSeq2000, 12x coverage Trios allow phase information; accurate haplotypes Other results: Structural variation, detection de novo variants Mission: Establish a map of Dutch genetic variation by whole genome- sequencing of 1000 independent Dutch genomes

3 http://www.nlgenome.com/ http://www.bbmriwiki.nl GoNL Project overview Sequence analysis 230 trio’s (690) 10 quartets (40) 10 MZ twin (40) Immunochip GWAS data for QC (UMCG) Imputation existing GWAS ~100,000 Dutch samples with GWAS data Data analysis & Method development ~ 50% of data aligned to reference (hg19) In-depth analysis on 20 trio’s (pilot)

4 http://www.nlgenome.com/ http://www.bbmriwiki.nl GoNL Project overview Sequence analysis 230 trio’s (690) 10 quartets (40) 10 MZ twin (40) Imputation existing GWAS ~100,000 Dutch samples with GWAS data Data analysis & Method development ~ 50% of data aligned to reference (hg19) In-depth analysis on 20 trio’s (pilot) Further analysis Structural variation, Population Genetics, De novo mutations, Mitochondrial DNA This is an open national project: please contact debakker@broadinstitute.org m.a.swertz@rug.nl and cisca.wijmenga@gmail.com for analysis ideas. debakker@broadinstitute.org m.a.swertz@rug.nlcisca.wijmenga@gmail.com

5 http://www.nlgenome.com/ http://www.bbmriwiki.nl GoNL BBMRI-GoNL is a national project see http://www.bbmriwiki.nl & www.nlgenome.com Analysis team (creating protocols and pipelines) Laurent Francioli (UU), Kai Ye (LUMC), Jeroen Laros (LUMC), Lennart Karssen (EMC), Martijn Dijkstra (UMCG), JoukeJan Hottenga (VU), Mathijs Kattenberg (VU), David van Encvort (NBIC), Leon Mei (NBIC), Elise van Leeuwen (EMC), … and many, many others Production team (data production) Freerk van Dijk (UMCG), Barbera van Schaik (AMC), Ies Nijman (Hubrecht), Jan Bot (LUMC), Slavik Koval (EMC) Steering group (coordination) Cisca Wijmenga (PI GoNL), Morris Swertz (PI analysis), Gertjan van Ommen (LUMC), Eline Slagboom (LUMC), Jasper Bovenberg (ELSI issues), Cornelia van Duijn (EMC), Dorret Boomsma (VU), Paul de Bakker (co-PI analysis, UU)


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