Seven Bridges Expands Its Pioneering Graph-Based Offerings to Advance Important Human Genome Research

BOSTON, June 23, 2020 /PRNewswire/ -- Seven Bridges, the industry-leading bioinformatics ecosystem provider, today announced the broad availability of its graph-based methods of analysis for population genomics research — addressing a longstanding concern about narrow applicability of existing genome analysis methods by using pan-genome graph references, which contain genomic variants from many populations around the world. These novel, game-changing methods will greatly improve the analysis of non-European ethnicities; support large, more diverse population studies; enable research on underrepresented populations; and aid in the development of personalized references for more precise analysis. Now available on all platforms powered by Seven Bridges, these latest graph-based methods build on the company's comprehensive offering of standard genome sequencing workflows. Seven Bridges is the first to offer a practical, scalable and accurate graph-based bioinformatics solution that effectively leverages known genomic variations of interest.

"Graph genomes have clearly emerged as the future of genetics research," said Bill Moss, CEO, Seven Bridges. "It is well known within the scientific community that the existing linear genome analysis methods do not work as well for non-European descent individuals and that they work poorly for African-descent individuals. This problem is solved by the diversity encoded in pan-genome graph references, which we employ in our latest, unprecedented offerings. I am proud that by providing the most comprehensive graph-based bioinformatics solution on the market, we are helping to drive innovative genomics research and more precise analysis for all populations."

Seven Bridges GRAF is an essential bioinformatics resource that transforms the existing linear human genome reference into a genome graph. A significant drawback to the linear reference is the inability to represent the genomic diversity of the human population, which creates a profound barrier to potentially life-saving research on non-European, understudied populations — including African, Asian, Hispanic and Middle Eastern. Seven Bridges GRAF will help address the longstanding need for bioinformatics tools that can support genetics research to benefit diverse populations.

Seven Bridges GRAF enables:

• Large human population studies by using a population-specific genome graph comprising millions of individuals
• Rare disease studies by using a curated graph containing mutations associated with the disease
• Precise analysis of individual genomes by making use of bespoke genome graphs and family genome graphs leading to accurate de novo mutation detection
• Sensitive detection of somatic mutations in tumor samples by using cancer genome and normal sample genome graphs

Current benchmarks highlight GRAF as one of the most accurate INDEL callers in the world, able to detect even long INserted or DELeted sections in an individual's genome. INDELs contribute to much of the genomic diversity between human populations and have also been associated with many genetic disorders affecting patients around the world. However, challenges in accurately detecting INDELs, especially across diverse populations, have slowed progress in translating these findings into the clinic. GRAF removes these bottlenecks — enabling researchers, geneticists and clinicians — to accurately examine a more complete and representative view of an individual's genome.

Building on the strong foundation that Seven Bridges created with its initial graph genome offering, the company is now providing researchers with direct access to GRAF. Moreover, given the critical importance of making the core of scientific study more representative, Seven Bridges is providing the GRAF Germline Variant Detection Workflow and GRAF Pan Genome Reference free of charge to academic researchers.

"Accurate detection of genetic variations for individuals from all backgrounds is essential to improving our understanding of disease and the development of targeted therapies," said Brandi Davis-Dusenbery, Chief Scientific Officer, Seven Bridges. "Even more to the point, it is critically important to the overall integrity, relevance and fundamental value of science. We feel strongly that academic researchers need easy access to these kinds of bioinformatics tools if they are to effectively advance the inclusive scope and meaningfulness of science ― which is why we are providing it to them at no cost."

To meet the needs of the research community, Seven Bridges will be expanding the GRAF product portfolio further — with the release of additional population-specific and personalized workflows throughout 2020. Seven Bridges GRAF replaces the previous Graph Genome Suite offering. For information on GRAF, please visit sevenbridges.com/graf.

About Seven Bridges                       

Seven Bridges enables researchers to extract meaningful insights from genomic and phenotypic data in order to advance precision medicine. The Seven Bridges Ecosystem consists of a compliant analytic platform, intelligently curated content, transformative algorithms, unprecedented access to federated data sets, and expert on-demand professional services. This holistic approach to bioinformatics is enabling researchers — at the world's leading academic, biotechnology, clinical diagnostic, government, medical centers, and pharmaceutical entities — to increase R&D efficiency, enhance the hypothesis resolution process, isolate critical biomarkers, and even turn a failing clinical trial around while also reducing computational workflow times and data storage costs. To learn more, visit sevenbridges.com or follow us on LinkedIn and Twitter.

Media Contacts
Eric Schubert
Seismic for Seven Bridges
+1 415 692 6799
[email protected]

SOURCE Seven Bridges

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