IVG 2010. Presentatie 4

Slides (presentatie) - 12 dec. 2010

Genetica van HDL-metabolisme: klinische relevantie voor (toekomstige) therapeutische strategieen

Dia 2

Clinical Cardiovascular Events Reported in Clinical Trials

Why has the risk of CAD not been reduced by virtually 100% by the current treatment programs?

CHD Risk According to HDL-C Levels Framingham Study

HDL-c is a target for therapy… But where to start…?


HDL family genetics: 10 years “AMC” results

Are we done with family studies?

Clinical Validation is Key

Validated Targets Are Critical

Genetics approaches: concepts


GWAS; the picture

GWAS in lipids; done deal...

Yes, it is relevant.

What to do with the 95 loci?

Dia 18

PCR based strategies

Novel Approach Next Generation Sequencing.....

NGS-SBS technique


Feed the Monster

Dry Data Sheet

Candidate Genes

Herman, Hovingh et al Nature Methods 2009

How well are we in enrichment of subgenome? (fold enrichment) Goal: 100.000 out of 3x109 nucleotides; 1 in 30.000 (30.000 fold enrichment) Capturing on filter: 70% aligned to subgenome, 89% of these alligned within amplimers: > 20.000 fold enrichment 99.8% of reads within amplimers read depth >20 What can we detect (SNPs / CNV Detection)?

Novel non syn mutations


Summary NGS

Next 10 years


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