The industry-leading bioinformatics ecosystem provider, Seven Bridges, based in Boston, recently entered a partnership with Google Cloud, the University Of São Paulo in Brazil and the Associação Genomas Brasil to contribute to the DNA do Brasil (DNABr) project, which focuses on the construction of a “reference genome that represents the genetic diversity of the Brazilian population,” according to a press release.
"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. Lygia da Veiga Pereira in the release.
Under the terms of the agreement, Seven Bridges GRAF will take on the construction of the genome graph reference’s accuracy, while Google Cloud contributes tech and storage resources to save data as they carry out the project.
"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."
The DNABr project, overseen by Pereira, Tábita Hünemeier, Ph.D., Department of Genetics and Evolutionary Biology, Institute of Biosciences at USP and Alexandre Pereira, Ph.D., Harvard Medical School, will consist of genome sequencing of 15,000 Brazilians using blood samples collected from various longitudinal studies from around the country. Google Cloud has helped process the first batch of 3,000 genomes.
The human reference genome is built based on European ancestry-related data, which has often presented challenges for identification and treatment processes as most genomes are found to be a mixture of Native Americans, Europeans and sub-Saharan Africans.
“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,” the press release continues.
Serving as the first of its kind, the technology is now available on a global scale to support large general human population studies to better identify multiple underrepresented populations and the development of personalized references.
“GRAF™ re-envisions the human reference genome as a graph instead of a linear haploid DNA sequence,” the press release states. “This helps researchers better interrogate DNA sequencing data from diverse populations by overcoming the bias in the reference genome and facilitating new genomic variant discovery.”