Click to advance to topic of interest

Up Arrow
  • Introduction
  • Old Assembly Models
  • Adding diversity to the human reference
  • Sequencing strategy
  • First Gold Genome - NA19240
  • “Gold”: New high-quality reference human genomes
  • Fosmid end sequence mapping
  • RefSeq alignment stats
  • Illumina sequencing
  • PCR Free Illumina Alignment stats
  • Variant density associated with repetitive elements
  • Segmental Duplication Length Distribution
  • BACs Will Resolve These Regions!
  • Hybrid assembly construction
  • Alignment of NA19240 to BioNano map
  • Alignment to GRCh38
  • SV detected with BioNano
  • DIPLOIDS ARE HARD
  • 10X maps short read data to original long molecules
  • Use 10X to phase variants on assembly
  • chr14:20,880,000- 20,940,000 GRCh38
  • Future directions
  • Acknowledgements
Down Arrow
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine
  • Speaker: Karyn Meltz-Steinberg, Staff Scientist / The McDonnell Genome Institute at Washington University School of Medicine