Illumina/The Broad Institute of MIT and Harvard Collaborate to Develop Open-Source Genomic Analysis Tools

Today we announced a collaboration between Illumina and The Broad Institute of MIT and Harvard for the development of secondary genomic analysis algorithms and software. Our data scientists will co-develop open-source software that brings together the industry-leading open-source GATK algorithms with the speed and enhanced accuracy of Illumina’s DRAGEN? (Dynamic Read Analysis for GENomics) Bio-IT Platform for commonly used methods, including small variant (SNV) and large variant (CNV/SV) detection.

This work will advance and accelerate genomic data processing, allowing researchers to spend less time processing data and more time figuring out what it means. They will also enable the vast amounts of data being produced around the world to be more easily pooled and accurately analyzed, which in turn can lead to new discoveries.

This is important because, as we know, getting from a genomic test to actionable answer accurately and quickly can make huge difference.

• When Bryce Olson was diagnosed with metastatic prostate cancer and standard of care didn't work, sequencing allowed his doctors to identify specific molecular drivers of his disease and find treatments and clinical trials that were a better fit for his cancer type.
• When Ellis was just two years old, sequencing allowed her to receive treatment that could slow the ravages of a debilitating rare disorder that had stolen her hearing, her ability to walk and the use of her arms and hands.
• When mother/daughter pair Debra and Delaney were sequenced, they got a name for the syndrome they had been trying to understand for more than a decade, along with connections to a new community of patients and researchers. 

For all these patients, and so many more, the answers the sequencing enabled were life changing.

However, getting from patient test to answer – whether it’s in the clinic or in a research lab – takes several steps. The As,Cs,Ts and Gs that flow off of a sequencer must be turned into actionable insights through a series of bioinformatics analyses. Our partnership with the Broad Institute is aimed at ensuring that labs of all sizes and disciplines can access the best tools for one of these crucial tasks: identifying genome variants.

We are only at the beginning of understanding how genomics can impact human health. By working together with the Broad to provide the community with best-in-class resources that address common challenges we are enabling researchers and clinicians to focus on what matters most and unlock the full power of the genome.

You can read the press release here.