1. GWASGWAS (oono@preferred.jp) 2014/1/16

2. (@delta2323_) PFI 20114 https://sites.google.com/site/kentaoono0/+ 3. GWAS GWAS GWASX-WASGWASPheWAS 4. = Genotype ALDH2rs671A or GPhenotype 5. (Insertion, Deletion : InDel) (Transposition) (Copy Number Variation : CNV) >1Kbp (Single Nucleotide Polymorphism : SNP) 1SNPCNV 6. Single Nucleotide Polymorphism : SNP > 1%1 SNPs USCS Genome Browser 7. GWAS 1 8. GWAS GWAS GWASX-WASGWASPheWAS 9. Genome-Wide Association Study : GWAS SNPs 20052002 SNPs vs N1 10. GWAS 1.Case/Control2.3.SNPshttp://homes.cs.washington.edu/~suinlee/research.htmlhttp://www.natureasia.com/ja-jp/jobs/tokushu/detail/154 11. GWAS 1000genome projectHapMap Project DBCLS Common Disease HapMap Project HPTA Manolio et al. Nature 461, 747-753 (2009) doi: 10.1038/nature08494 12. GWAS SNPs1300 Digestive system disease/Cardiovascular disease/Metabolic disease/Immune system disease/Nervous system disease/ Response to drug http://www.genome.gov/multimedia/illustrations/ Published_GWA_Reports_6-2012.pdfPublished Genome-Wide Associations through 12/2012 -8 for 17 trait categories PNHGRI GWA Catalog www.genome.gov/GWAStudies www.ebi.ac.uk/fgpt/gwas/ 13. GWAS GWAS GWASGWASPheWAS 14. GWAS Post GWAS GWAS SNPs XWAS GWAS GWAS PheWAS 15. (1)GWASSNPs SNPs 2SNPsGPGPUBrute forcePFI2 http://www.ustream.tv/ recorded/25059057 16. (2)XWASPathway Epi genomeDNAGenomeRNATranscrip tomeProteome Metabolome 17. XWAS 18. (3)GWAS GWAS Missing Heritability FDAwarning23andMe 2013125 3 New York Times 20131231 201418 201418NYT 20131231 19. GWAS Linkage Disequilibrium : LD) SNPs PLAMP in vitro/in vivo 20. (4) Phenome-Wide Association Study : PheWAS SNPs1 Reverse GWAS vs 1N 2000VanderbiltJoshua C Denny2010Nature BiotechnologyTrend GWASPheWAS 21. PheWASGWAS 1.2.SNPs3.SNPs JoshuaNLPNinety-nine percent of the work is not in software engineering or coding ICD9 22. PheWAS Medicare, Medicaid HIPAA Act (EHR) HITECH ActEHR (meaningful use)PheWAS 23. PheWAS GWAS Phenotype 26. PheWAS+GWAS PheWASGWAS PheWAS One way to increase the SNP coverage is to perform a GWAS with an extremely rich phenotype data set (PheWAS-GWAS) 27. GWAS/PheWAS GWAS/PheWAS PheWAS NICHD Probing human variation in regenerative capacity using GWAS coupled with iPSCs 28. 2000GWAS GWAS GWASMissing Heritability PheWAS 29. PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations, Denny JC et. al, Bioinformatics. 2010 May 1;26(9):1205-10. doi: 10.1093/ bioinformatics/btq126. Epub 2010 Mar 24. The Use of Phenome-Wide Association Studies (PheWAS) for Exploration of Novel Genotype-Phenotype Relationships and Pleiotropy Discovery, Pendergrass SA et. al, Genet Epidemiol. 2011 Jul;35(5):410-22. doi: 10.1002/gepi.20589. Epub 2011 May 18. Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View, Pendergrass SA et. al, BioData Min. 2012 Jun 8;5(1):5. doi: 10.1186/1756-0381-5-5. A PheWAS approach in studying HLA-DRB1*1501,Hebbring SJ e. al, Genes Immun. 2013 Apr;14(3):187-91. doi: 10.1038/gene.2013.2. Epub 2013 Feb 7 30. Genome- and Phenome-Wide Analyses of Cardiac Conduction Identifies Markers of Arrhythmia Risk, D. Ritchie et. al, Circulation. 2013 Apr 2;127(13):1377-85. doi: 10.1161/CIRCULATIONAHA. 112.000604. Epub 2013 Mar 5. Variants near FOXE1 are associated with hypothyroidism and other thyroid conditions: using electronic medical records for genomeand phenome-wide studies, Denny JC et. al, Am J Hum Genet. 2011 Oct 7;89(4):529-42. doi: 10.1016/j.ajhg.2011.09.008 Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data, Joshua C Denny, Nature Biotechnology 31, 11021111 (1 December 2013) | doi:10.1038/nbt.2749 Trends in computational biology2010, Mak HC, Nat Biotechnol. 2011 Jan;29(1):45-9. doi: 10.1038/nbt0111-45b 31. 2013126 Linking Genes to Diseases by Sifting Through Electronic Medical Records, NYT, 20131128 , , 2012 1026 PheWAS - phenome-wide association studies, Vanderbilt University, Biomedical language Processing Lab HP A Catalog of Published Genome-Wide Association Studies, NIH, Division of Genomic Medicine HP NICHD Vision Workshop Regenerative Medicine and Regeneration, Kristin Baldwin 32. Copyright 2006-2014 Preferred Infrastructure All Right Reserved.