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

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

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.

Presenter

Yi Lian
Staff Product Mgr, DRAGEN
Illumina