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Bioinformatics and Personalized Medicine Nicholas A. Shackel 1  A.W. Morrow Gastroenterology and Liver Centre  Royal Prince Alfred Hospital 2  Liver Laboratory, Centenary Institute Sydney, NSW, Australia 3  Medicine University of Sydney Sydney, NSW, Australia.
Overview ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Bioinformatics ,[object Object],[object Object]
Functional Genomics  Cell Nucleus Chromosome Protein Graphics courtesy of the National Human Genome Research Institute Gene (DNA) Gene (mRNA),  single strand
Systems Biology ,[object Object],[object Object],[object Object]
Genome ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Transcriptomes ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Gene Regulation and Expression Post Translational Mechanisms Alternate Splicing / ncRNA Epigenetic regulation
 
Understanding Disease
HCC Pathogenesis Saffroy (2007)  Clin Chem Lab Med 45(9) : 1169
[object Object]
Gene Expression  and Outcome  in HCC Hoshida (2008) NEJM :  1
Chromosomal Aberrations Pie (2009)  Acta Biochim Biophys Sin : 1
mRNA profiling of HCV-induced cirrhosis and HCC - Hierarchal Clustering HCC Cirrhotic (F4) Donor Cirrhotic G1  HCC G1 HCC G3 HCC G1 Cirrhotic G3 Cirrhotic G3 HCC G_ HCC G_+HBV HCC G3 HCC  ALD HCC G3 HCC  ALD HCC  ALD HCC G3 Cirrhotic G1 Cirrhotic G1 HCC G1 Cirrhotic G3 Cirrhotic G3 HCC G4+HBV Cirrhotic G1 HCC G1 Cirrhotic G3 Cirrhotic G1 Cirrhotic G3 HCC G1 HCC G3 Cirrhotic  ALD Cirrhotic  ALD Cirrhotic  ALD Cirrhotic  ALD Cirrhotic  ALD Donor D o nor Donor Donor Pearson ’ s Correlation
HCC Pathogenesis Aravalli (2008)  Hepatology : 2049
MicroRNA Targets Chen  WJG  2009  p1665 LIVER
miRNA Clinical Outcomes Junfang et al  NEJM  2009  p1437
[object Object],[object Object],[object Object],Pearson ’ s Correlation ,[object Object],[object Object],[object Object],G3 F0 Explant G1 F4 G3 F3 G1 F4 Explant G3 HCC  Explant G1 F4 Explant G1 F4  Explant G3 F4  G1 F3 Explant G1 F4 Explant G3 F4 Explant G3 F4 Explant G1 HCC Explant G3 HCC Explant G3 HCC Explant G1 HCC  Explant G1 HCC Explant G3 F4 ALD ALD ALD Explant G3 HCC ALD Explant G1 HCC  Donor G1 F0 G1 F0 G3 F2 G3 F1 G3 F2 G1 F4 G1 F0 G3 F1 G1 F4 G3 F3 Donor Low Fibrosis Severe fibrosis/  Cirrhotic HCC ALD miRNA profiling of HCV-induced fibrosis, cirrhosis and HCC  Hierarchal Clustering
Personalised Medicine
Interleukin-28B ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],Ge et al  Nature  2009 461, p1
IL-28B Ge et al  Nature  2009 461, p1
IL-28B Ge et al  Nature  2009 461, p1
New Technologies
Sequencing costs
Deep Sequencing Technologies
 
 
Summary ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]

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Dr Nicholas Shackel - Bioinformatics and Personalised Medicine