Getting the Most from the Reference Assembly and Reference Materials

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 develops technical infrastructure for reference materials that enable the translation of whole genome sequencing into clinical practice. The GRC will address updates and improvements to the human reference genome assembly, focusing on (1) increasing user understanding of the assembly model, (2) educating users about benefits and challenges associated with transitioning to the latest assembly version (3) introducing public resources that provide details about reference assembly construction that can inform data analysis and (4) ongoing curation efforts. GIAB will provide: (1) an introduction to GIAB reference materials, (2) an update on data and analyses from the Personal Genome Project (PGP) trio, including the impact of complex genomic regions, structural variations, and assembly issues, (3) information on use of GIAB reference materials with GA4GH benchmarking tools and (4) a summary of new analysis plans.

Speakers:

• Valerie Schneider (NCBI)

• Tina Graves-Lindsay (MGI)

• Deanna Church (10x Genomics)

• Melissa Landrum (NCBI)

• Jane Loveland (GENCODE)

• Justin Zook (NIST)