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JGI, Stanford Tap Spiral's Software for Energy Research, Variant Detection

NEW YORK (GenomeWeb) – Bioinformatics firm Spiral Genetics has signed agreements with the Department of Energy's Joint Genome Institute and Stanford University's Center for Genomics and Personalized Medicine to use its variant detection solutions in sustainable energy research and disease studies.

Last year the company launched the first two of what, it said, will be a suite of software products based on a proprietary method of detecting large structural changes in the genome. The first of these, called Anchored Assembly, encapsulates the company's core methodology and provides researchers with tools to detect insertions, deletions, transpositions, and repeats, as well as single- and multi-nucleotide variants. A second solution, Onco Assembly, is a specialized version of the Anchored Assembly software for identifying tumor-specific variation.

More recently, the company has released a new member of the portfolio called Multi-sample Assembly, which offers tools for detecting variants associated with rare childhood disorders in data from family trios.

According to the company, under the terms of its agreement with JGI, the institute will use Anchored Assembly to explore the genetic characteristics of several plant and bacterial species as part of efforts to developing sustainable energy sources.

For their part, researchers in Stanford's Center for Genomics and Personalized Medicine will use Spiral's Onco Assembly software to detect structural variants in cancer genome analysis projects. According to the company, multiple labs at the school have already incorporated the broader Anchored Assembly solution into their pipelines and are using it to detect structural variants that are associated with a range of diseases.

"Researchers have spent years investigating the medical impacts of small variations in the genome … [and that] has led to some amazing discoveries," but many conditions still are not well understood and cannot be explained with simple changes to the genome, Adina Mangubat, Spiral's CEO said in a statement.

Gaining a better understanding of larger and more complex variations could shed some light on these elusive conditions, she added.

Spiral is presenting all three of its variant detection solutions at the Advances in Genome Biology and Technology meeting being held this week in Marco Island, Fla. Also at the conference, the company will introduce a new solution for data management and population studies that will help companies incorporate new data into their studies without having to repeat previously completed analyses.