How DRAGEN is being used by research and clinical genomics customers

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Application Case Study

Sequencing Centers

The Customer

Macrogen, Inc. based in Seoul, Korea, is a world leading service provider in high-quality gene analysis. Macrogen provides various genome analysis services, including HiSeq X Ten platform-based, large-scale whole-human genome sequencing service, also known as X-Genome (Xpressway to Genome). As one of the largest sequencing centers in the world and the first commercial organization to offer the $1,000 genome, Macrogen is a true leader in genomics and continues to provide the most cutting-edge technologies to their customers.

The Challenge

While we have the capacity to generate over 500 gigabytes of NGS data per day with our range of NGS platforms, speeding up analysis of this big data allows us to operate our NGS facilities at maximum capacity and further increase our customer’s satisfaction,” said Dr. Jeong-Sun Seo, chairman and founder of Macrogen.

The Solution

Macrogen has chosen multiple DRAGEN™ Bio-IT Processors to reinforce its big data processing and analysis capacity for large-scale genome analysis and clinical sequencing services. Macrogen has world-class next-generation sequencing (NGS) facilities, which are equipped with Illumina’s HiSeq™ X Ten, HiSeq 2000, HiSeq 2500, HiSeq 4000 and MiSeq® sequencing systems; Thermo Fisher’s Ion PGM™ and Ion Proton™ systems; Roche’s GS-FLX system; and PacBio instruments. Macrogen’s IT infrastructure capacity exceeds 11 petabytes of storage and more than 3,000 core clusters.

“After evaluating several data analysis options, we found DRAGEN’s ability to provide enormous time savings, while simultaneously reducing infrastructure costs and maintaining high accuracy, to be the best solution to offer our customers in their efforts to advance personalized medicine and genomic research.” said Dr. Jeong-Sun Seo.

The Results

Using DRAGEN, Macrogen was able to analyze each genome (30x coverage) produced by their HiSeq X Ten sequencing system in only 26 minutes, while maintaining high sensitivity and specificity. This analysis included conversion from BCL, the file that is delivered by the sequencing instrument, to variant call format (VCF).