Getting the Most from the Reference Assembly and Reference Materials

TheGenome Reference Consortium(GRC) is the group responsible for the update and maintenance of the human, mouse and zebrafish reference genome assemblies. The GRC works to create assemblies that better represent population diversity and provide more robust substrates for genome analysis. The GRC is comprised of: The National Center for Biotechnology Information (NCBI), The Sanger Insititute (SI), The McDonnell Genome Institute at Washington University (MGI) and the European Molecular Biology Laboratory (EMBL-EBI), and the Zebrafish Model Organism Database (ZFIN).TheGenome in a Bottle(GIAB) consortium develops reference materials, methods, and data to assess the accuracy of genome sequencing. GIAB makes it possible to know that human genome sequencing is reported accurately.

GRC and GIAB

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 Reference Materials to enable research and clinical laboratories to benchmark variant calls. The GRC will discuss the latest updates and improvements to the human reference genome assembly, focusing on (1) ongoing curation efforts, (2) public resources that provide details about reference assembly construction that can inform data analyses, (3) increasing user understanding of GRCh38 and the assembly model 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 data and analyses from the Personal Genome Project (PGP) trio, including results characterizing variation in complex genomic regions, structural variations, and assemblies for variant calling, (3) information on use of GIAB reference materials with GA4GH tools to benchmark variant calls and (4) a summary of new analysis plans. 
Speakers:
<UL>
<LI>
Valerie Schneider (NCBI): GRCh38 assembly basics and updates
</LI>
<LI>
Tina Lindsay (MGI): Reference-grade human assemblies
</LI>
<LI>
Karen Miga (UCSC): Centromere assemblies
</LI>
<LI>
Benedict Paten (UCSC): Building human variation graphs
</LI>
<LI>
Fritz Sedlazeck (BCM): Structural Variation Characterization Across the Human Genome and Populations
</LI>
<LI>
Justin Zook (NIST): GIAB benchmarks for difficult variants
</LI>
</UL>

Hilton Orlando

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Getting the Most from the Reference Assembly and Reference Materials

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