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Getting the Most from the Reference Assembly and Reference Materials

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San Diego Convention Center

111 West Harbor Drive

Room 28B, Upper Level

San Diego, CA 92101

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This workshop will be co-hosted by the Genome Reference Consortium (GRC), the group responsible for continued development of the human reference assembly, and the Genome in a Bottle consortium (GIAB), which is developing authoritatively characterized human genome samples to benchmark sequencing and bioinformatics methods. The GRC will discuss the latest updates and improvements to the human reference genome assembly, focusing on (1) ongoing curation efforts and future plans for the reference assembly, (2) increasing user understanding of GRCh38 and the assembly model, (3) public resources that provide details about reference assembly construction that can inform data analyses, and (4) new datasets and analyses that are contributing to high quality representations of human genomes. GIAB will provide: (1) an introduction to NIST/GIAB reference materials, (2) an update on public short, linked, and long read data and analyses to develop benchmark variation in complex genomic regions and structural variations, (3) best practices for using GIAB reference materials to benchmark small and large variant calls, and (4) a summary of future analysis plans and sample development.

Invited Speakers:

  • Arang Rhie (NHGRI): De novo assembly of haplotype-resolved genomes and building a human pan-genome reference
  • Peter Audano (U. Washington): Using long-read data to reveal variation and advance the human reference genome
  • Terence Murphy (NCBI)/Joanella Morales (EBI): Reference genome annotation updates
  • Valerie Schneider (NCBI): The human reference assembly: past, present and future
  • Justin Zook (NIST): Genome in a Bottle Benchmarks for Structural Variants and New Public Data
  • Fritz Sedlazeck (Baylor): An assessment of computational genotyping of Structural Variations for clinical diagnosis
  • Miten Jain (UCSC): Generating high-quality reference human genomes using PromethION nanopore sequencing
  • Evaluations of GIAB Structural Variants for Benchmarking (Andrew Carroll, DNAnexus; Aaron Wenger, PacBio; Joyce Lee, BioNano; Yuval Porat, Genoox)

Date and Time

Location

San Diego Convention Center

111 West Harbor Drive

Room 28B, Upper Level

San Diego, CA 92101

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