COLUMBUS, Ohio--(BUSINESS WIRE)--GenomeNext, LLC, a leader in genomic data management and integrated analysis, announced today that it’s genomic analysis pipeline delivered the bioinformatics and genomic sequence analysis capability supporting Nationwide Children’s efforts to win the CLARITY Undiagnosed Challenge.
“…several families received confirmations of previous genetic findings and had others ruled out. New potential disease genes, or novel genetic variants, were identified for several of the families, leading to plans for new avenues of investigation and further studies to show whether the variants are really disease-causing.”
An estimated 25-30 million Americans suffer from a rare disorder in the United States alone, according to the National Institutes of Health (NIH). In many cases, these individuals undergo years of diagnostic testing and evaluation without an accurate diagnosis. CLARITY Undiagnosed is the second crowd-sourcing competition hosted by the Manton Center for Orphan Disease Research at Boston Children’s and the Department of Biomedical Informatics (DBMI) at Harvard Medical School. The CLARITY Undiagnosed competition recruited 26 renowned teams from around the world vying to interpret DNA sequences and solve the medical “mysteries” of five patients with undiagnosed conditions, setting new standards for genomic medicine. Full information about the Challenge is available online at http://www.childrenshospital.org/clarity-undiagnosed and http://www.childrenshospital.org/CLARITY.
Nationwide Children’s Hospital, utilizing GenomeNext’s genomic analysis pipeline, outperformed 21 leading organizations from around the world that ultimately completed the competition, delivering the most accurate and clinically actionable genetic data. Boston Children’s Hospital presented “…several families received confirmations of previous genetic findings and had others ruled out. New potential disease genes, or novel genetic variants, were identified for several of the families, leading to plans for new avenues of investigation and further studies to show whether the variants are really disease-causing.”
Contributing to Nationwide Children’s efforts was the quality and accuracy of the genomic analysis data generated by GenomeNext’s pipeline and variant annotation and filtering capability derived from GenomeNext’s genomic knowledgebase. GenomeNext has effectively analyzed thousands of human genomes with great precision and accuracy, incorporating a vast array of functional annotations for human genomic variants, assembled into a comprehensive, population-scale database. At the core of GenomeNext’s novel database is a complete reanalysis of the 1000 Genomes Consortium’s Phase III sequencing dataset, successfully completed in less than one week. This principal dataset consists of genomic sequence data from 2,504 individuals sampled across 26 different populations resulting in approximately 100 TB of analyzed genetic data. The precision of GenomeNext’s proprietary sequence analysis pipeline resulted in a more comprehensive and accurate dataset, identifying thousands of previously unidentified variants, which contributed to Nationwide Children’s efforts to effectively identify and filter clinically actionable variants. “The combination of leveraging the most accurate sequence analysis pipeline and access to the most exact and diverse repository of DNA sequence data is critical to accelerating the promise of precision medicine,” said James Hirmas, CEO of GenomeNext.
The GenomeNext platform provides differentiating genomic sequence analysis and performance around speed, scale and capability successfully addressing technology and computational bottlenecks, but critical to GenomeNext’s mission is the ability for the Platform to accurately and reproducibly deliver clinically actionable data. “There has been great progress over the last several years reducing the time required for genomic sequence analysis, but in most cases competing pipelines sacrifice quality, accuracy and reproducibility for speed,” said Hirmas. “GenomeNext’s commitment is to contribute to improving the care of patients with complex and undiagnosed disorders and to deliver the ability to accurately and reproducibly analyze and integrate genomic data, paramount to accelerating the promise of precision medicine.”
Dr. Peter White, Director of Nationwide Children’s Biomedical Genomics Core and GenomeNext co-founder stated, “Given the extremely large size of whole human genome sequence data, you run the risk of finding something that might not be a real, relevant factor. The patient cases for the CLARITY Challenge were particularly demanding because these patients already had been through extensive clinical and genetic tests. Therefore, one had to look for changes in unusual genes or rare genetic variants (including structural and non-coding variants) that are unlikely to be a part of routine clinical genetic testing. This information, with its uncertainties, had to be distilled into a report that would be understandable, help guide the clinicians, and provide information to the families.”
“The real benefactors here are the patients who have endured diagnostic odysseys to find answers to complex medical conditions previously undiagnosed,” Hirmas said. “GenomeNext is pleased to have been able to contribute to Nationwide Children’s efforts in support of such a valuable concept conceived by Boston Children’s. We strive through ongoing product evolution and partnerships such as Nationwide Children’s Hospital to continue to support and deliver better genome-guided medicine.”
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.
Genomics Simplified™
About GenomeNext - 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.
© 2015 GenomeNext, LLC. GenomeNext is a trademark of GenomeNext, LLC. All rights reserved.
About Nationwide Children’s Hospital
Ranked 7th of only 10 children’s hospitals on U.S. News & World Report’s 2014-15 “America’s Best Children’s Hospitals Honor Roll” and among the Top 10 on Parents magazine’s 2013 “Best Children’s Hospitals” list, 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.
Related article: Nationwide Children’s Hospital Genomics Team Honored for Innovation in Unraveling Medical Mysteries
Contacts
GenomeNext, LLC
Wendy Dueri, 401-451-4831
www.genomenext.com
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