Chapter 1 Literature Review 1 Enzymes-The Catalytic Machinery of Life Life depends on a complex network of chemical reactions catalyzed by specific enzymes, and any modification…

1. Carlo Colantuoni & Rafael Irizarry April 19, 2006 [email protected] Gene Annotation in Genomics Experiments With a Focus on Tools in BioConductor 2. Biological Setup…

Slide 1 Carlo Colantuoni & Rafael Irizarry April 19, 2006 [email protected] Gene Annotation in Genomics Experiments With a Focus on Tools in BioConductor Slide 2 Biological…

Slide 1 Mammalian RNAi pathways Michael T. McManus MIT Center for Cancer Research Slide 2 what is RNA interference? RNAi is a way to silence gene expression to perform RNAi,…

Protein Structure Prediction Sequence database searching Domain assignment Multiple sequence alignment Comparative or homology modeling Secondary structure prediction Homologous…

Gene regulation in biological responses Hypothesis testing High throughput 96 well plates array based Single gene knock-up knock-down (RNAi) animal models âEssentially,…

Nick Parkin Trainee Clinical Scientist Wessex Regional Genetics Laboratory A false negative result for Myotonic Dystrophy type 2 using quadruplet primed PCR Myotonic dystrophy…

Implementation of a new diagnostic service for congenital adrenal hyperplasia Charlene Crosby West Midlands Regional Genetics Laboratory Congenital Adrenal Hyperplasia Classic…

02_13.jpg Human chromosome 4 02_15.jpg 02_15_2.jpg 02_03.jpg Human chromosome 17 1:6 1:36 1:10,000 Chromosome specific duplication Known as Low Copy Repeat sequences (LCRs).…

02_13.jpg Human chromosome 4 02_15.jpg 02_15_2.jpg 02_03.jpg Human chromosome 17 1:6 1:36 1:10,000 Chromosome specific duplication Known as Low Copy Repeat sequences (LCRs).…