Columbus, OH – GenomeNext, LLC, a leader in genomic data management and integrated analysis, announced today that it will provide the foundational genomic platform and sequence analysis for a targeted Uveal Melanoma (UM) and Tumor Predisposition Syndrome (TPDS) study co-sponsored by Ohio State University and Nationwide Children’s Hospital.
GenomeNext will analyze and interpret genetic samples from a cohort of UM patients with high risk of hereditary cancer predisposition. Instrumental in the study’s design is the ability to accurately and effectively identify causative variants associated with disease pathogenesis. GenomeNext’s proprietary genomic analysis platform delivers clinically validated precision enabling more effective and accurate variant calling leading to the discovery of a more comprehensive and reproducible list of candidate biomarkers for further evaluation; a primary factor in selecting GenomeNext for sequence analysis and interpretation.
“Variant discovery in tumor samples is particularly challenging, due to the mixture of tumor and healthy cells and requires tools that have been optimized for that purpose, minimizing false discoveries and providing the sensitivity needed to detect low frequency variants within a cancer sample,” said Dr. Peter White, Director of Molecular Bioinformatics at Nationwide Children’s and Associate Professor of Pediatrics at OSU.
“We are excited to partner with OSU and Nationwide Children’s and realize increased adoption of the GenomeNext platform for both discovery and diagnostic applications,” said James Hirmas, GenomeNext CEO. “Dr. Abdel-Rahman’s focus and study highlight the continuing application of genome-guided medicine and the impact it may provide to dramatically improve disease management and patient care.”
Dr. Abdel-Rahman added “Working with this rare cancer already identified a novel hereditary tumor predisposition syndrome caused by mutation in BAP1. Identification of additional candidate genes associated with hereditary predisposition to UM will lead to further studies to characterize the clinical phenotype and potential targets for therapy of these patients. This will not only impact clinical management of patients with eye melanoma but will affect patients with other cancers.”
GenomeNext’s genomic analysis platform is offered as a Software as a Service (SaaS) through the company’s website, http://www.genomenext.com. Alternative configurations, including private cloud and custom pipelines are considered upon request.
GenomeNext is a genomic informatics company dedicated to accelerating the promise and capability of predictive medicine and scientific discovery. We commercialize genomic analysis tools and integrated systems for the evaluation of genetic variation and function. Our advanced informatics and data management solutions are designed to simplify, expedite and enhance genetic analysis workflows. Our solutions provide the market with genomic data and analysis at an unprecedented combination of performance, quality, cost and scale without requiring the investment in high-performance computing resources and specialized personnel. Our proprietary platforms address a broad range of highly interconnected markets, including sequencing, genotyping, gene expression, and molecular diagnostics. Our customers include leading genomic research centers, academic institutions, government laboratories, and clinical research organizations, as well as pharmaceutical, biotechnology, agrigenomics, and consumer genomics companies.
Ranked 9th of only 12 children’s hospitals on U.S. News & World Report’s 2015-16 “America’s Best Children’s Hospitals Honor Roll,” Nationwide Children’s Hospital is one of the nation’s largest not-for-profit freestanding pediatric healthcare networks providing care for infants, children and adolescents as well as adult patients with congenital disease. As home to the Department of Pediatrics of The Ohio State University College of Medicine, Nationwide Children’s faculty train the next generation of pediatricians, scientists and pediatric specialists. The Research Institute at Nationwide Children’s Hospital is one of the Top 10 National Institutes of Health-funded free-standing pediatric research facilities in the U.S., supporting basic, clinical, translational and health services research at Nationwide Children’s. The Research Institute encompasses three research facilities totaling 525,000 square feet dedicated to research. More information is available at NationwideChildrens.org/Research.
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