Nba 100824
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The document discusses genetic research into the causes of human diseases. It notes that common risk factors identified through genome-wide association studies fail to explain most of the hereditary factors for diseases. Other factors like rare variants, copy number variants, and gene expression may contribute more to the "missing heritability" than previously thought. Later genome-wide studies have identified more associations with rare variants and copy number polymorphisms. Understanding the combined effects of various genetic factors could help explain more of the hereditary risk for common diseases.
![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](https://image.slidesharecdn.com/nba100824-100824195644-phpapp02/85/Nba-100824-17-320.jpg)
![Genomewide association studies and assessment of t... [N Engl J Med. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20647212](https://image.slidesharecdn.com/nba100824-100824195644-phpapp02/85/Nba-100824-19-320.jpg)
![Genomewide association studies and assessment of t... [N Engl J Med. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20647212](https://image.slidesharecdn.com/nba100824-100824195644-phpapp02/85/Nba-100824-20-320.jpg)
![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](https://image.slidesharecdn.com/nba100824-100824195644-phpapp02/85/Nba-100824-35-320.jpg)
![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](https://image.slidesharecdn.com/nba100824-100824195644-phpapp02/85/Nba-100824-37-320.jpg)
![Use of genome-wide expression data to mine the "Gr... [PLoS Genet. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20532202](https://image.slidesharecdn.com/nba100824-100824195644-phpapp02/85/Nba-100824-38-320.jpg)
![Discovery and characterization of chromatin states... [Nat Biotechnol. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20657582](https://image.slidesharecdn.com/nba100824-100824195644-phpapp02/85/Nba-100824-39-320.jpg)
![Functional impact of global rare copy number varia... [Nature. 2010] - PubMed result
http://www.ncbi.nlm.nih.gov/pubmed/20531469
Saitama medical university](https://image.slidesharecdn.com/nba100824-100824195644-phpapp02/85/Nba-100824-40-320.jpg)
![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](https://image.slidesharecdn.com/nba100824-100824195644-phpapp02/85/Nba-100824-50-320.jpg)
Nba 100824
- 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
- 10. Linkage SNP ¡ ? GWAS ! SNP ? CNV !! Missing heritability ! GWAS CNV rare variant ! Exome !!! <=
- 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
- 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
- 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 ?aws revealed in "longevity genes" study : Genetic Future http://scienceblogs.com/geneticfuture/2010/07/serious_potential_?aws_in_lon.php
- 25. * GWAS common risk SNP (Sibling) * After reproductive life? 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)
- 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
- 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
- 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
- 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