 | | 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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