Illumina
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Illumina DRAGEN 4.2: Enhanced machine learning, new targeted callers, and more

DRAGEN v4.2 is here with new features including DRAGEN’s most accurate SNV and SV calling powered by machine learning enhancements, new targeted callers for carrier screening and LPA, and support for Telomere-to-Telomere (T2T) CHM13 reference, and more, furthering DRAGEN’s incredible accuracy improvements. DRAGEN v4.2 expands the breadth of pipelines with the new Explify Respiratory Pathogen Panel (RPIP), Urinary Pathogen Panel (UPIP) pipeline, and updates to metagenomics pipelines. Hear more about the new accuracy gains and more in the upcoming technical webinar on DRAGEN 4.2.

New learning objectives:

  • Increased SNV and SV Calling Accuracy powered by an enhanced machine learning model and multigenome (graph).
  • Dramatic improvements in small CNV calling accuracy with joint SV/CNV calling.
  • New targeted callers for carrier screening, such as HBA 1/2, CYP21A2, RHD/RHCE, and LPA, enhancing the accuracy of carrier screening for genetic disorders.
  • Support for Telomere-to-Telomere (T2T) CHM13 reference improving the accuracy of genome assembly.
  • Metagenomics pipeline updates enabling more accurate microbiome analysis.
  • New Explify Respiratory Pathogen Panel (RPIP) and Urinary Pathogen Panel (UPIP) pipelines, enabling rapid and accurate identification of respiratory and urinary pathogens.
  • Reduced runtime for compression and mapping/aligning with new parallel processing.

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.