Cardiovasculaire Geneeskunde.nl

IVG 2010. Presentatie 4

Slides (presentatie) - Dec. 12, 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…?

7

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

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

PCR vs NGS

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

SNPs/CNVs

Summary NGS

Next 10 years

Acknowledgments

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