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  • Acknowledgements
  • Are all the missing diagnoses lurking in SV regions?
  • BACK TO ‘ROUTINE DIAGNOSTICS:
  • BCM WGL Launches Clinical Exome Sequencing Oct. 2011
  • BUT!
  • Can we use long-reads to improve the reference?
  • Capture and Sequencing Results
  • Conclusions
  • Disclosure
  • EXTENDING LONG READS TO SV ANALYSIS:
  • GENETICS LESSONS
  • Honey Spots
  • Honey Tails
  • Human Genome Assembly
  • Improved De Novo Assembly
  • Increasing diagnostic rate: (WES)
  • Introduction
  • Large Genome Events in Capture Panels: (>400x coverage)
  • Lupskian SVs in Parliament
  • MICROARRAYS AND ‘CLINICAL’ SV’s: CNVs/UPD in 146/~6300 WES cases
  • MORE: PacBio Long Range Capture
  • Novel Breakpoint Discovery
  • PacBio Genome Assembly Using Error Corrected Reads
  • PacBio-LITS
  • PacBio RS Evolution
  • Parliament: In the Cloud (DNA Nexus)
  • Parliament Structural Variation
  • PB Honey
  • PBJelly Improved Mammalian Genome Assemblies
  • PBJelly Workflow (filling gaps)
  • REQUIREMENTS FOR ‘GENOMES TO BEDSIDE’
  • SHARED VISION - CLINICAL TRANSLATION OF GENOMICS:
  • Technical Advances to Discovery
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  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Wilson, Ph. D., Director / McDonnell Genome Institute
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine
  • Speaker: Richard Gibbs, AC, Professor of Molecular and Human Genetics / Baylor College of Medicine