1. Saitama medical university

2. Saitama medical university

3. “it is now clear that common risk variants fail to
explain the vast majority of genetic heritability for any
human disease”
Saitama medical university

5. Saitama medical university

6. Saitama medical university

7. Saitama medical university

8. Saitama medical university

9. Saitama medical university

10. Linkage
SNP … ?
GWAS !
SNP ?
CNV !!
Missing heritability !
GWAS CNV rare variant !
Exome !!! <=

11. Saitama medical university

14. Saitama medical university

15. Published Genome-Wide Associations through 3/2010,
779 published GWA at p<5x10-8 for 148 traits
NHGRI GWA Catalog
www.genome.gov/GWAStudies
Saitama medical university

16. Saitama medical university

17. Genomewide association studies and assessment of t... [N Engl J Med. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20647212
Saitama medical university

18. Saitama medical university

19. Genomewide association studies and assessment of t... [N Engl J Med. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20647212

20. Genomewide association studies and assessment of t... [N Engl J Med. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20647212

21. Good GWAS
"longevity genes" study
Serious flaws revealed in "longevity genes" study : Genetic Future
http://scienceblogs.com/geneticfuture/2010/07/serious_potential_flaws_in_lon.php

22. Saitama medical university

23. Saitama medical university

24. Saitama medical university

25. *
GWAS common risk SNP (Sibling)
* After reproductive life? Saitama medical university

26. Saitama medical university

27. Table 2 Selected disease associations with rare CNVs and common CNPs
CNV: Copy Number Variant
CNP: common (>= 5% MAF) Copy Number Polymorphism
Saitama medical university

28. 2007 SNP 2010 CNP (CNV)

29. Saitama medical university

30. Linkage
SNP … ?
GWAS !
SNP ?
CNV !!
Missing heritability !
GWAS CNV rare variant !
Exome !!! <= / ?

31. Table 2 Selected disease associations with rare CNVs and common CNPs
CNV: Copy Number Variant
CNP: common (>= 5% MAF) Copy Number Polymorphism
Saitama medical university

34. Saitama medical university

35. Use of genome-wide expression data to mine the "Gr... [PLoS Genet. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20532202 Saitama medical university

36. Saitama medical university

37. Genomewide association studies and assessment of t... [N Engl J Med. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20647212
Saitama medical university

38. Use of genome-wide expression data to mine the "Gr... [PLoS Genet. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20532202

39. Discovery and characterization of chromatin states... [Nat Biotechnol. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20657582

40. Functional impact of global rare copy number varia... [Nature. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20531469
Saitama medical university

41. Saitama medical university

42. Saitama medical university

43. Saitama medical university

44. Saitama medical university

45. Saitama medical university

46. http://www.everystockphoto.com/photo.php?imageId=3021422

47. http://www.everystockphoto.com/photo.php?imageId=2095855

48. http://www.everystockphoto.com/photo.php?imageId=238810

49. http://www.everystockphoto.com/photo.php?imageId=2433714

50. Uncovering the roles of rare variants in common di... [Nat Rev Genet. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20479773
Saitama medical university