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  • Introduction
  • Genetic Similarity
  • SNPs: Single Nucleotide Polymorphisms
  • Examples of SVs: Structural Variations
  • 1000 Genomes Project
  • SV Discovery Over the Three Phases of the 1000 Genomes
  • Conclusion of the 1000G Project: Published September 30, 2015
  • HGSV: Human Genome Structural Variation Consortium
  • HGSV: Selected Trios
  • Illumina
  • PacBio SMRT Sequencing
  • BioNano Genomics
  • Illumina Moleculo
  • 10X Genomics
  • Strand-Seq
  • StrandSeq: Ideogram
  • HGSV: Phasing on Single Technology
  • Discovering Indels (1-49bp)
  • Discovering SVs (>50bp): Unified Callsets
  • Discovering Inversions
  • Total Inversion Calls in Three Trios
  • Mobile Element Insertions (MEI)
  • Take Home Message
  • Discovery of Haplotype-resolved SVs - bioRxiv
  • HGSV: Human Genome Structural Variation Consortium
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  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine
  • Speaker: Charles Lee, PhD., FACMG, Scientific Director and Professor / The Jackson Laboratory for Genomic Medicine