Joint effort to advance unbiased precision medicine for underrepresented populations in Brazil through the construction of a representative and accurate genome graph reference.
The DNABr project, led by Lygia da Veiga Pereira, PhD, Tábita Hünemeier, PhD, Department of Genetics and Evolutionary Biology, Institute of Biosciences at USP, and Alexandre Pereira, PhD, Harvard Medical School, plans to sequence the genomes of 15,000 Brazilians utilizing blood samples from several longitudinal studies in the country. To date, the first batch of 3,000 genomes have been processed and stored using Google Cloud. “Using standard computational tools, we are already finding a large number of novel variants of African and Native American ancestries within the Brazilian genomes. We want to use the graph-based approach in order to capture the full value of our genomes.,” said Dr. Pereira.
GRAF™ re-envisions the human reference genome as a graph instead of a linear haploid DNA sequence. This helps researchers better interrogate DNA sequencing data from diverse populations by overcoming the bias in the reference genome and enabling new genomic variant discovery. This first-of-its-kind, graph-based bioinformatics solution is available globally and supports large human population studies, enables research on multiple underrepresented populations and aids in the development of personalized references for more precise analysis. GRAF™ is able to construct ancestry-aware genome graph references that encompass the genetic architecture of the population of interest, thus making it more accurate than both linear and all-inclusive pan-genome approaches.
“With our collective expertise in computational, bioinformatic and genomic sciences, Seven Bridges, along with USP and Google Cloud, aim to advance unbiased precision medicine by overcoming scalability and accuracy challenges that plague current approaches,” said William Moss, CEO, Seven Bridges. “Using our GRAF solution, DNABr researchers now have the technology they need to better understand the genetic variations of the Brazilian people.”
“Additionally, through Google Cloud, the DNABr is able to overcome the challenges of storing and processing all of this data as efficiently and quickly as possible,” said Riju Khetarpal, Director, Global Healthcare & Life Sciences Partnerships at Google Cloud. “Already we have been able to reduce infrastructure costs by 90% for data processing.”
For more information on GRAF, visit https://www.sevenbridges.com/graf/
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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.
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