Abstract
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Dovetail Genomics, LLC, a company that uses proximity ligation and advanced informatics for genomic solutions, have introduced Dovetail Hi-C and Fix-C with Selva SV Detection Software as a Service. Applications of the technique range from oncology and undiagnosed disease research to retrospective analysis of clinical trials, the company said.
“Historically, there has been no way to gain structural variation information from formalin-fixed paraffin-embedded (FFPE) samples,” said Veronica Mankinen, vice president of commercial operations at Santa Cruz, CA-based Dovetail. “The goal is to be able to use these millions of global FFPE retrospective studies.”
Though widely available, FFPE cancer tissue samples store a vast supply of genomic information, but because the DNA significantly degrades in a FFPE sample, it’s “difficult or impossible to conduct broad interrogations of clinically important large-scale structural rearrangements,” the company said.
“Until today, our business has primarily been focused on providing the highest quality genome assemblies to the plant and animal communities,” said Dovetail CEO Todd Dickinson. “With this new service, and the many advances that will follow throughout the year, we are delighted to be able to bring the same long-range genomic insights to bear on human health.”
Arul M. Chinnaiyan, M.D., director of the Michigan Center for Translational Pathology, focuses his research on functional genomic, proteomic and bioinformatics approaches to study cancer for the purposes of understanding cancer biology, as well as to discover clinical biomarkers. Chinnaiyan said using Dovetail’s products, his team has been able to validate existing findings and discovered the structural variants that they suspected, but have been unable to detect using other tools.
Geneticist Helio Costa, Ph.D., instructor of pathology and biomedical data science and assistant lab director of molecular pathology at Stanford University has been piloting Fix-C with Selva software to see if the application can be used to advance precision medicine in cancer treatment. When Costa and his team profiled FFPE tumor tissue using Dovetail’s technology, they discovered gene signatures not discernable by other approaches. “This pilot shows promise for what this method could identify,” he said. “It worked rather well.”
Dovetail said it is now accepting a limited number of customers into its Early Access Development Program for TAD Analysis, an application of the Dovetail Hi-C data type that enables researchers to evaluate the three-dimensional structure of the genome and genome folding.