Early access program for human chromosome mapping analytical service announced by Hitachi High-Technologies Corporation and OpGen

Hitachi High-Technologies Corporation and OpGen, Inc., a leading genetic analysis company, announced the introduction of an Early Access Program for its upcoming Human Chromosome Explorer^SM, human chromosome mapping analytical service for clinical research and life science research applications.

The companies entered a development agreement in October 2013 to develop the human chromosome mapping analytical service. The service combines OpGen’s market-leading Whole Genome Mapping™ technology with a newly developed suite of bioinformatics and data management applications in Hitachi High-Technologies’ and Hitachi group’s cloud-based environment for comprehensive and efficient, automated analysis of structural variations of entire human genomes.

Collaborations under the early access program are currently underway. Hitachi High-Technologies is accepting additional applications for human structural variation projects under the early access program through the end of the year, and expects to launch the full analytical service including automated detection and analysis of heterozygous chromosomal aberrations in early 2015.

"We are pleased to be collaborating with the Hitachi High-Technologies and OpGen teams to explore the capabilities of their technology to complement massively parallel sequencing approaches to the detection of complex structural variations in humans.  We are especially intrigued with the human chromosome mapping technology and its potential to resolve variation in complex genomic regions that are not accessible to short-read sequencing," said Michael Talkowski, Assistant Professor of Neurology, Psychiatry, and Pathology, and Director, Genomics and Technology Core at Massachusetts General Hospital, Harvard Medical School.

The Human Chromosome Explorer^SM service enables customers to have high resolution, high fidelity whole genome maps produced for human samples, complete with automated, comprehensive reports of structural variations across the human genome, with secure data access and analysis in the cloud. The complete cloud solution further enables customers to store, analyze, and manage their human genome SV datasets and projects and to share data through collaboration modules, genome annotation database interfaces, and other informatics tools.

“We are very enthusiastic about our ongoing partnership with Hitachi High-Technologies and the deepening relationship between our two companies”, said Evan Jones, Chairman and CEO of OpGen.

The joint development of the new human chromosome mapping and structural variation analytical platform is a great example of a solutions approach to human genome informatics that will ultimately advance translational research and the study of numerous human genetic diseases. We look forward to continued work with our Hitachi High-Technologies colleagues as we add features and deploy this enabling platform service on a global basis.

The global, yet information-rich view from Whole Genome Mapping^TM offers critical insight into the order, orientation, length, and location of biologically and clinically significant components of complex genomes, which may include DNA copy number variations, indels, inversions, and translocations—genetic information which is often undetected with next generation sequencing alone. These genetic variations have been associated with cancer, autism, neuropsychiatric disorders, and many cognitive and developmental disorders.

“We believe the Human Chromosome Explorer^SM will be a highly complementary technology for whole genome analysis with next generation sequencing technologies, for the analysis of long-range genetic events. We are excited to provide enhanced value for the discovery of complex structural variants in human chromosomes with our developing technology with OpGen,” said Yoshito Nejime, Deputy General Manager, New Business Development Division of Hitachi High-Technologies Corporation.

Hitachi High-Technologies and OpGen plan to introduce more details about the service in the booth 839 at the American Society of Human Genetics Annual Meeting, being held October 18-22 in San Diego.