The application of Next-generation DNA sequencing as a discovery and diagnostic tool continues to rapidly expand, but wide-spread adoption and accessibility remains limited by cost and throughput associated with computational bottlenecks and the investment in specialized personnel required to architect and manage data processing pipelines.
The GenomeNext Platform leverages industry standard tool sets and resources combined with an innovative and powerful bioinformatic pipeline creating an integrated, turn-key solution that results in cost-effective, deterministic results. The motivation for design was driven by the inability of preexisting informatics intensive solutions to offer a simplistic and cost-effective platform that can deliver reproducible results. Traditional methods used to address computational challenges and the speed at which data can be processed, inherently introduce inaccuracies in DNA sequence analysis which deliver results that are not reproducible and not deterministic; critical attributes required when identifying and evaluating variants in a genomic sequence that could impact health and disease. The computational backbone of the GenomeNext platform employs proprietary methods that specifically address these inaccuracies, which results in increased speed and performance, decreased costs, ultimately delivering results that are both deterministic and reproducible.
"By fully automating the analysis process on a standardized, deterministic analysis platform, removing traditional storage and compute constraints, lowering costs, and enabling population-scale analysis, the GenomeNext platform has the potential to significantly advance medical research, accelerate scientific discovery and expand understanding of the basis, treatment and prevention of complex diseases," said James Hirmas, co-founder and chief executive officer of GenomeNext.
The functionality of the service enables the ability for researchers to simply upload datasets generated by a DNA Sequencer (FASTQ), perform DNA genomic analysis and receive a recalibrated variant call file (VCF), a fully annotated filtered variant file and an annotated database file of results to quickly facilitate research objectives. The integrated, turnkey platform eliminates the need to design, architect, build and manage modular informatics pipelines requiring specialized resources and increased costs.
The GenomeNext Platform is a cloud-based solution designed not only to deliver cost-effective, deterministic results, but also includes integrated enterprise capability, enabling researchers and clinicians to effectively organize and manage data. The solution allows users to organize teams, create multiple projects and enables cross-organizational collaboration to effectively and efficiently manage and store data.
The core technology was developed at Nationwide Children's Hospital by Dr. Peter White and his team through the Biomedical Genomics Core.
"Nationwide Children's has a strategic goal to introduce genomic medicine into multiple domains of pediatric research and healthcare within our hospital. As part of that goal we developed a novel parallelization strategy to accurately and rapidly analyze a human genome, which we recently published in Genome Biology (see http://genomebiology.com/2015/16/1/6/). GenomeNext has built upon that technology to create a tool for researchers and clinicians alike to perform genomic analysis in a standardized way. Not only does it aid in rapid diagnosis of genetic disorders, which can be critical for newborns with monogenic disease, but it also enables a rapid and cost effective mechanism for us to share genomic data both within our organization and with our collaborators across the country," said Dr. Peter White, Director of Molecular Bioinformatics at The Research Institute at Nationwide Children's Hospital and Assistant Professor of Pediatrics at Ohio State University.
The SaaS will be initially offered by request only through the company's website, http://www.genomenext.com/.
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.