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  • Introduction
  • Background of AK1 Studies
  • Asian Genome Project
  • Current Challenges of Short Read Genome Sequencing
  • Building of the Asian Reference Genome
  • PacBio Whole Genome Sequencing
  • De novo Assembler: Falcon
  • De novo Genome Assembly
  • Summary of AK1 Assembly
  • Integration of all the results using in-house genome browser
  • AK1 Whole Genome Optic Mapping by BioNano irys technology
  • Number of Closed or Extended Gaps Using SMRT Subreads
  • Total Number of Gaps Filled Depending on the Number of Covering Subreads
  • Chromosomal Distribution of Closed or Extended Gaps
  • 33 Gaps Completely Closed by PacBio Subreads and BACs at Centromeric Region of Chr. 20
  • What is the Characteristics of 250 Newly Closed Gaps?
  • Characterization of the Gap Sequences - Repetitive Sequences in the Gap
  • Characterization of Sequences Around the Gap - Repetitive Sequences Around the Gap
  • Structural Variation Identification: Anchoring AK1 Contigs to GRCh38
  • 479 Structural Variations Identified in Chromosome 20
  • Disease-related Structural Variations: Insertion, Deletion and Inversion
  • Gap Closure of Complex Genomic Region by BAC-based Approach at Centromere Region of Chromosome 20
  • BAC Clone Size Discordance
  • BAC Size Discordant Confirmation
  • Asian Specific Structural Variation: Large Insertion in NINL (pigmentation related gene)
  • Summary
  • Acknowledgements
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  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.
  • Speaker: Jeong-Sun Seo, MD, PhD / Genomic Medicine Institute / Seoul National University College of Medicine / Macrogen Inc.