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  • Intro
  • Talk Outline
  • DNAnexus
  • Overview of Structural Variation
  • Types of Structural Variation
  • Calling With Short Reads is Challenging
  • Illumina Structural Variant Tools
  • Tools for PacBio Data
  • Apps Available on DNAnexus
  • DNAnexus Interface for Workflows
  • SV Benchmarks
  • Creation of Multi-Technology Truth Set
  • Benchmarks – Part I : Only PacBio Data
  • Recall – PBHoney and Sniffles - Deletions
  • Breakdowns by Call Type - Deletions
  • Breakdowns by Call Type - Insertions
  • Sniffles – Inversions and Translocation
  • Highly Complementary at 10-Fold Coverage
  • Reduced Complementarity at 20-Fold Coverage
  • Only PacBio Data Calling Conclusions
  • Benchmarks – Part II: Illumina + PacBio Data
  • Parliament – Combining PacBio and Illumina Data
  • Parliament Pipeline
  • Recall – Parliament (Assembly vs PacBio)
  • Parliament – Calling DEL Events
  • Parliament – Calling INS Events
  • Illumina at 30-Fold Coverage is Largely Within PacBio at 5-Fold Coverage
  • Illumina at 30-Fold Coverage is Largely Within PacBio at 20-Fold Coverage
  • Illumina + PacBio Hybrid Conclusions
  • Benchmarks – Part III : Putting it all Together
  • Recall with Ensemble Strategies
  • Call Overlap at 10-Fold Coverage
  • Call Overlap at 20-Fold Coverage
  • Full Combination Ensemble Strategies
  • Conclusions
  • Thank-you!
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  • Speaker: Andrew Carroll
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  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
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  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll
  • Speaker: Andrew Carroll