Assembling High-quality Human Reference Genomes for Global Populations

For Research Use Only. Not for use in diagnostics procedures.
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The current human reference genome assembly (GRCh38) was derived from sequencing the DNA of more than 50 ethnically diverse individuals. As such, the reference sequence represents an admixed background of contributing populations and repeatedly switches from one ethnic haplotype to another.

Using Single Molecule, Real-Time (SMRT) Sequencing, it is now possible to sequence and de novo assemble individual human genomes to construct a reference-quality human genome assembly. Global initiatives are currently underway to apply these de novo assembly methods to individuals representing multiple ethnic populations, thereby extending the diversity of available human reference genomes.

Join us to learn about the latest advances in SMRT Sequencing for de novo assembly of human genomes. By attending this webinar, you'll learn to

  • See the latest results for PacBio human whole genome sequencing using Sequel System Software (v5.1) and the new polymerase (v2.1 chemistry)
  • Learn how to generate de novo assemblies of population-specific human reference genomes
  • Hear about progress with the MGI Reference Genome Improvement project, and the availability of diverse human reference genome assemblies
  • Understand quality metrics used to assess de novo human genome assemblies, and what makes an assembly ‘reference-quality’
  • Find out how to generate diploid human genome assemblies using FALCON-Unzip to create phased haplotype sequence for maternal and paternal alleles
  • Hear how de novo assemblies provide access to the full spectrum of genetic variation in a human genome, including SNVs, Indels and larger structural variants
  • Learn how population-specific reference genomes increase discovery power for variant calling in a national cohort-based population genetics study
  • Adam Ameur, Bioinformatics Scientist, Ph.D., SciLifeLab National Genomics Infrastructure, Uppsala University
  • Tina Graves-Lindsay, Leader of Reference Genome Group, McDonnell Genome Institute at Washington University
  • Paul Peluso, Ph.D., Principal Scientist, PacBio


Fill out the form on the right to watch a recording of the live broadcast.