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  • Introduction
  • Disclosures
  • Obama Quote
  • Precision Medicine Initiative
  • Google Searches
  • Target or prevent disease by measuring it more precisely
  • Cystic Fibrosis
  • Precision oncology
  • The current landscape of Genomic medicine
  • Precision medicine also needs to be accurate medicine
  • So what is the ideal genome diagnostic today?
  • Challenges to achieving clinical grade quality with current approaches
  • Coverage
  • If you can’t see it you can’t call it
  • KCNH2
  • How well does 30x “clinical” whole genome sequencing perform?
  • Repeat Regions
  • The genome is complex
  • Reference Sequence
  • The human reference sequence contains highly validated risk alleles
  • Make a Call at Every Position
  • Huntington disease
  • Highly Polymorphic Regions
  • The HLA/MHC
  • Challenges to short read sequencing in highly polymorphic areas of the genome
  • Potential solutions
  • Accuracy of Variant Calling
  • Structural variation
  • The thinWGS assay for copy-number variant detection
  • An example of precision medicine
  • Allele silencing in hypertrophic cardiomyopathy
  • Current therapies are palliative
  • Genetic Therapy
  • 5 common variants cover 90% of the population
  • Targeted RNA-Seq from iPS cardiomyocytes using PacBio long read sequencing
  • Phased first patient cohort using long read sequencing.
  • Precision gene silencing
  • Conclusions
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  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center
  • Speaker: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center