Doing more with DRAGEN™ v3.2.8

Advancing Workflows through Relentless Innovation

We’ve been busy over the last few months! Back in May, Illumina announced the acquisition of Edico Genome and the DRAGEN™ (Dynamic Read Analysis for GENomics) technology. Since then, we have been hard at work expanding DRAGEN’s capabilities to provide more advanced, robust and performant pipelines for our customers. With the inclusion of DRAGEN into the Illumina ecosystem, we are now able to take advantage of the expertise of both teams to build out an expanded chest of tools that offer added functionality, benefits and ease-of-use.

The team has come a long way since we last published about DRAGEN on the BaseSpace™ Blog, and we are excited to share some insight into what we have been working on. Over the coming months, we will continue to post about our latest updates and activities to keep you updated.

Earlier this month, we released DRAGEN v3.2.8, which introduces a variety of new capabilities designed to deliver more insights from your data.

An easier to use, comprehensive germline pipeline

DRAGEN includes high-quality SNV calling. In addition, our germline pipeline now includes CNV (copy number variant), SV (structural variant), and Repeat Expansion detection, all in a single analysis! Previously, these callers had to be run independently, which created more steps in your workflows, room for human error, and added to overall sample processing time. With v3.2.8, we now enable a single automated pipeline which makes it easier to run analysis, reduces the potential for errors, and saves you time.

Learn more about:

• SV Calling with Manta
• Repeat Expansion detection with ExpansionHunter v1.0

A new, faster algorithm for converting BCLs to FASTQs with BCL Convert

Our sequencing systems generate binary base calls (BCLs), which must be demultiplexed into FASTQs (read + quality score) for secondary analysis. As the data output generated by our systems continues to grow, we are continuously looking for ways to reduce the overall analysis times to help our customers operate efficiently at scale. BCL Convert has been re-written to be more capable than ever; it reduces the overall demultiplexing time by ~15% for a full NovaSeq™ S4 flowcell run!

The latest version of BCL convert is available now for use on DRAGEN servers, and will ultimately replace Illumina’s bcl2fastq software in BaseSpace and as a standalone software package.

DRAGEN v3.2.8 Apps in BaseSpace™ Sequence Hub

As we update our pipelines, we are continuing to make them available in BaseSpace to make it even easier to run DRAGEN tools on your datasets. The following apps are now available on all regional instances of BaseSpace:

• DRAGEN Germline Pipeline
• DRAGEN Somatic Pipeline
• DRAGEN Joint Genotyping Pipeline
• DRAGEN Methylation Pipeline
• DRAGEN Reference Builder

For a full listing of what’s included in DRAGEN v3.2.8, check the Release Notes.

Want to learn more about DRAGEN? Stay tuned to the blog to learn more about how our customers are using DRAGEN, accuracy and precision metrics, and useful tips & tricks for running DRAGEN pipelines on your data.

Do you have any feedback or comments? Let us know at techsupport@illumina.com, or join us at the DRAGEN Bio-IT Platform Community.

--The DRAGEN Team

For Research Use Only. Not for use in diagnostic procedures.