Click to advance to topic of interest

Up Arrow
  • Introduction
  • Outline
  • Background
  • Structural Variants
  • Allele Frequency
  • Strategy
  • Scoring SSVs for Biological Impact
  • Example: SNCA and Lewy Body Variant of AD (LBV/AD): Region Selection
  • SSV Evaluation System: Prediction
  • Test for association with phenotype
  • Cloning, Phased Sequencing and Haplotype Analysis
  • Strong Association between Haplotype and LBV/AD phenotype
  • SNCA Expression and LBV/AD Phenotype compared with AD
  • Haplotype association with SNCA mRNA expression
  • SSVs and Causality: Bioinformatics, LR sequencing and validation
  • PacBio derived haplotypes span many genes
  • PacBio reads genotype and phase TOMM40 poly-t locus
  • Acknowledgements
Down Arrow
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine
  • Speaker: Michael W. Lutz, Senior Research Scientist / Department of Neurology, Duke University School of Medicine