Illumina DRAGEN v4.3: Comprehensive coverage with leading edge innovations

DRAGEN v4.3 is here with new features that enhance the coverage of the genome including a next-generation multigenome (graph) reference that can now incorporate hundreds of high-quality assemblies such as those built by the Human Pangenome Reference Consortium (HPRC); a new machine learning mosaic calling model in the small variant caller; and a new family of specialized callers called MRJD (Multi-Region Joint Detection) that can be used for screening in paralogous regions for mutations in difficult genes such as PMS2. Hear more about the new features in the upcoming technical webinar on DRAGEN 4.3.

New learning objectives

• Advancement with Next-generation Multi-genome (graph) reference and DRAGEN’s accuracy
• New integrated mosaic caller
• New specialized callers like Multi-Region Joint Detection that enables genotyping of genes such as PMS2, NEB, IKBKG etc. in segmental duplication regions.
• Enhanced efficiency with unified targeted caller output
• Improvements in ORA compression to support non-human genomes and more

Presenter

Yi Lian
Staff Product Manager, DRAGEN
Illumina

Yi Lian is a staff product manager for DRAGEN at Illumina where he collaborates with customers and across the organization to define the features and roadmap for Illumina's innovative secondary analysis solution. With over 15 years of genomics experience and a dual masters in Genomics and Computer Science from George Washington University, Yi continues to manage and guide the role of DRAGEN in the genomics industry.

M-AMR-01407