http:// gonl genome of the netherlands your name meeting june 21, 2011
TRANSCRIPT
http://www.nlgenome.com/http://www.bbmriwiki.nl GoNL
Genome of the Netherlands
Your name
Meeting
June 21, 2011
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
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)
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 analysisStructural variation, Population Genetics,
De novo mutations, Mitochondrial DNA
This is an open national project: please contact [email protected] [email protected] and
[email protected] for analysis ideas.
http://www.nlgenome.com/http://www.bbmriwiki.nl GoNL
BBMRI-GoNL is a national projectsee 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)