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  • Introduction
  • Disclosures
  • Genomic medicine is here
  • Obama
  • Precision medicine also needs to be accurate medicine
  • If you can’t see it, you can’t call it
  • The genome is complex
  • Repeat tracts cause disease
  • We are not good at calling non-SNVs
  • Potential solutions
  • Clinical Quality (CQ) 20x Q20 mapq>0
  • Genome or exome?
  • Long vs short in low complexity region RPGR
  • Long read approaches reveal previously unappreciated structural variation
  • Clinical application
  • 22 yr old male
  • Variant size graph
  • Top Candidate: PRKAR1A Deletion
  • Precision therapy
  • Allele silencing in hypertrophic cardiomyopathy
  • Current therapies are palliative
  • Dominant disorder: possible benefit from silencing mutant allele
  • 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
  • Thanks
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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
  • Speakers: Euan Ashley, Associate Professor of Cardiovascular Medicine & Genetics / Stanford University Medical Center | 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