The Reference Assembly & Reference Materials: Updates from the GRC & GIAB

This workshop is 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, including the impact of new assembly sequencing efforts funded by NHGRI, (2) increasing user understanding of GRCh38, (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. Speaker list below!

• Valerie Schneider (NCBI): What's new and what's next for the human reference assembly?

• Karen Miga (UCSC): Updates from the T2T (Telomere To Telomere) Assembly Consortium

• Jean Molong (UCSC): Genome Variation Graphs with the vg toolkit

• Joanella Morales (EMBL/EBI): Matched Annotation from the NCBI and EMBL-EBI (MANE): A standardized "default" transcript set

• Justin Zook (NIST): New Genome in a Bottle benchmarks for difficult genome regions

• Jason Chin (DNAnexus): A benchmark for the MHC from diploid assembly

• Justin Wagner (NIST): Benchmarks for small variants using long and linked reads

• Lightning talks (various): Examples validating the utility of the new small variant benchmark