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Illumina, Broad Institute Collaborate on Secondary Genome Analysis Software

NEW YORK – Illumina today announced a partnership with the Broad Institute to codevelop secondary genome analysis software.

The collaboration will bring together the Broad's Genome Analysis Toolkit (GATK) with Illumina's Dynamic Read Analysis for Genomics (Dragen) Bio-IT platform and provide a standardized methodology for processing high-throughput sequencing data and performing variant discovery analysis, aiming for sensitivity, accuracy, and scalability.

The software will be open-source and distributed through the Broad's community support channels, including GitHub. Illumina will develop proprietary, hardware-accelerated versions of the software for Dragen, and the partners will validate that results from these versions are functionally equivalent to the co-developed open-source software to ensure interoperability of data for downstream analyses.

Financial and other terms of the collaboration were not disclosed.

"Illumina's goal is to deliver industry leading technologies to our customers, whether that means creating tools ourselves, bringing new technologies and teams in house, or partnering to enhance our offerings," Illumina Senior VP of Product Development Susan Tousi said in a statement. "This is why we were so thrilled to acquire Edico Genome and Dragen last year and it is in this spirit that we are partnering with the Broad with the goal to deliver best-in-class open-source software for commonly used methods. By creating a suite of algorithms combining the best of Dragen and GATK, we believe we can fuel the clinical adoption of sequencing by decreasing the cost and time of analysis."

GATK is a software suite used for identifying SNPs and indels in NGS data from whole exomes and genomes. Dragen is a hardware solution for genomic data analysis that uses field programmable gate arrays to enable algorithms for mapping, sorting, and variant calling, originally launched by Edico Genome. Illumina acquired Edico in 2018.

The partners have collaborated around the GATK before: In 2016, Broad and Illumina partnered to offer GATK on Illumina's BaseSpace Sequence Hub. Dragen is also available on BaseSpace as well as in local installations.

"Broad and Illumina are committed to ensuring labs of all sizes and disciplines have access to the best algorithms," Anthony Philippakis, Chief Data Officer at the Broad Institute, said in a statement. "By bringing our expertise together to improve on our open-source toolkit, we can offer our most advanced comprehensive pipeline, while ensuring it remains widely available, open, and accessible to the global genomics community. This is a long-term partnership — we will innovate together to drive the leading edge of novel variant calling for the advancement of genomics."