| Moleculaire genetica bij hart- & vaatziekten: Een array aan mogelijkheden! |
| | klinische genetica |
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| klinische genetica |
| | Slide 4 |
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| Inschakelen klinisch geneticus |
| | DNA onderzoek |
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| Waarom DNA onderzoek? |
| | Monogene ziektenautosomaal dominant |
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| Erfelijke (hart- en vaat) ziekten |
| | Slide 10 |
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| Genome-wide association studies for complex traits: consensus, uncertainty and challenges Mark I. McCarthy, et al. Nature Reviews Genetics 2008;9:356-369 |
| | Slide 12 |
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| Generation 3 4 |
| | Slide 14 |
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| Results of genetic screening |
| | Sequencen kandidaat gen |
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| Variaties in DNA |
| | AAATATCTATATTCCAATCTCATATTCTTATTTATTTTAATGCTCTTGAACATCTCTAGAAAATGTTTTTCCGTAACGCTTCGA ATCAATGTGTCTCTGTAGTCCTAATATATTTTGATATTTATATTTGATGCTATGTAGAT[C/G]CAACATTTCTGGGTGTAAAC TTTCTAGCTATATCTTTGTTTTGCTATTCACTCTAAATGACTCTTTTTGAGTCTCTTGAATTTTACTTTGCCGCCAAATAATAC TCTCCCACTTTGAAACTAATTGTTATATCTTCTTTCTTTGTACCAGAGTACACTTTAATAGGGGAGTCAGCTTATATATTTTGT AAGAGATATCTCTAAAGGGGTGGCATTTATGTTGACATCCACCAAGCAGGCTACAATCAGTGCCTCTGTCTGGTTATTTTCCAT ATGTTTCCTCTCATTTCAGTTAGAAATTGCATGGGCTGAATGGTAACATTTATGGCTCTATGACAAGTTCTTGCAAATAGGTGT CCAGGTAACAGCTGTGGTCAGATATTCTCTCATAACTTCTGATGCTTATGGAAACAAACTGTGGCTTCTTTATTAGATGTATGG AAAAGATCCTTGGTGGGAAGAGATGAATGAGAATATGTTTTCAAGTATTGGGACAAACTAGGATTACTTAACATTAGCCCCTCC AAGCACTGAAAATGTCTTGTTTC[C/T]GATCACTCTTTATATATTGTACTTTTGAAAAGTTCTACATATTCTCAAAACTATTT GGCCATGAAGGTGGATGACTCCAATGTCTTTTCCAAGCCTATAATTCTACAATTCTATAGAATAAAAAGATCCATCAACAAATC AACAGAAGCATGTCAGAGGAAGCAATGAATAATATCCTCCAACCTTTTACAGTTTACATAATGGGGATTGGAAACAGCCTAAGT CATATTTTTTACTATATAATAGCATATTATTGATATTTAACATTTAATTTCCCTGATGTGGATCCTTTGACACGATAACTGAGA AATTTCTAGTAATCCTTTGGGATCAGTATAATTAGCCACATATTACTGATGAGAAAATTAAAGCCCCAGAGTTCACTGCAGCAT GGAATAAGTAACTTATTCAACATTTCAAGTTGGGAGAAGCAGAATCAAGAACTTAAACCCAAGTTCTTTGAAGAGATATCTTTA ATTCTATGTGTGCTGCTCTTCCCACAATATCATATAGCCATATGATCCTACCAGCCGTATGATCCTACCATTAAAATCAGTCTG GCCATATGAGATGAGCTATATCACTCCTGGGCCCTTGATTTGTCTGATATGTATATGGTGAAACATGCAATATGTATCCGAAGA ATAAGGAAATAAGTGCGCAGGCATGCACACACACACACACACACACACACACACACACACACAGAATTATCAACAACCTCACTT CTATTATTCATTGCCTGAAAAAGAAAAGAAAGTCAAACACTTTGCAGAAACCTACATTTTCCCCAGAAACAGAATTACCATGTA TAAATTAGAGAAAAGATGAATTCCTTTTTAAGGGGCACTAAATGACATATTAGATAGTGACTTTAAACTAATTGTATGTTCTCA CATATTTGCAAAACATACAGAAAAACTGACCAAATGCATGCTTCTCAATTTTTTATTTTCATAGGCTGAGTGTCTTTTCCCATC CACATAATTATTTAATTTTTACCCAGTGAAAGTATTTATTGAGGAGTCTCAGATACTATTGTCTATATATATTGAAGAAACCGG CCTTTTGTTGTTGTTGTTTGTTCTTTAACAGGGTCTCAATCTGTTGCTCAGGCTGGAGTACAGTGGCGTACTACATTTTACTGA ATATCCTTTTAATGCAGGAGTAGCACTTGGGCAATCTGGAAAATAACTTCCTAAAATATTGGGTTTATTAGGGATATGTTAATT TGTGAGTAATTTGCAGGAGTTGATCAATCATATCATTATGGAATTTTCTAGCCTGTGATTATAACATCTGTACTGTGCATTTCA TGTGATTAGTTAAGTCAGAATACTCTAGGCTTTATTGGTTTTTGTTTGGTTGGTTGTTTTTGTTTGTTTGTAAGTAAGCAAGGC TTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGCAGTGCAATGGCCC[G/A]TCTCTGTTCACTTCAACCACAAAAAAATGG CTGCCTCCTGGAATCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTAGGATTACAGGCACCCATCACGTTTAGAACAATGC CACATCTGGCTAATTTTTTATTTTTAGTAGAGACAGGGTTTCACCATGTCAGCCAGGCTGGTCTCAAATTGCATGATGACTGTA ACTGACCTCAAATGATCTGCCTGCCTCAGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCATGCCTTTAATGTTCTCAT TGGCCTCTATGCTTTAGATATCACATGTAGCAGAGGAGTTCCCACAATGTTGAAATGATAAGAGCTAGGC GCTGACAAAGATC ATGTGTTTTCATTACCTCTAGGTCCACCCAACTCACATGAGCAAAAGAATGATCACCTGATGGAATCTCTCTATTGCACACCGG ATGCCAATTGAAATATAAAGTCACATGGTAGCACATTGCATTAGGAGATACTCGTTCATGGCAAAACTCCCCACAATGTTTGAC |
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| Frazer et al. Nature Rev Gen 2009 |
| | Bekijken SNPs: SNP array Whole genome array (WGA) |
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| SNP Coverage across the Human Genome |
| | SNP Coverage across the Human Genome |
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| SNP array: wat kunnen we ermee? |
| | Slide 24 |
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| Slide 25 |
| | Langste haplotype Chromosoom 12 PKP2 gen: Mutatie bevestigd |
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| Slide 27 |
| | SNP array: wat kunnen we ermee? |
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| Opzet GWAS |
| | Slide 30 |
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| Odds ratio’s 1.2 |
| | McCarthy et al. Nature Rev Genetics 2008;9:356-369 |
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| Published Genome-Wide Associations through 6/2009, 439 published GWA at p < 5 x 10-8 |
| | Beperkingen GWAS |
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| Sterke punten GWAS |
| | Toekomstige ontwikkelingen |
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| Toekomstige ontwikkelingen |
| | Toekomstige ontwikkelingen |
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| Concluderend/samenvattend |
| | reserve |
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| Newton-Cheh et al Nature genetics 2009 |
| | Beschermende faktoren |
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| Slide 43 |
| | Slide 44 |
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| Hypertrophic cardiomyopathya sarcomeric disease? |
| | Slide 46 |
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