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N-of-One Launches BaseSpace Variant Interpreter App


By Allison Proffitt 
 
March 13, 2014 | N-of-One has launched Variant Interpreter, an app available on Illumina’s BaseSpace Apps, Illumina’s dedicated applications store and informatics community dedicated to advancing genomic analysis (see, “What Should We Make of BaseSpace”).
 
Using this app, oncologists, pathologists and researchers can request a molecular interpretation of a variant or multiple variants in a tumor using convenient drop-down menus in a familiar app format, and rapidly receive a customized interpretative roadmap linking the variant data to scientific knowledge. N-of-One supplies a summary on the effect of the variant, incidence of mutations in this tumor type and the role this mutation may play in the tumor.  
 
Users of the app will pay $75 per variant, and payment will be made through the BaseSpace system. 
 
The initial release will cover 30 prevalent cancer-associated genes that are commonly tested. Future releases will include additional genes. This app links the results of sequencing to published, disease-specific research and analysis of cancer. 
 
“N-of-One unleashes the power of next generation sequencing (NGS) for oncologists, pathologists and researchers by providing the latest published clinical and scientific knowledge associated with NGS data from each tumor,” said Chris Cournoyer, Chief Executive Officer of N-of-One, in a press release.  “Variant Interpreter is N-of-One’s first app in the cloud, demonstrating that our services and content can be deployed in a variety of ways to meet evolving markets needs. We plan on introducing other apps in conjunction with Illumina's evolving portfolio.”
 
N-of-One has traditionally delivered their clinical interpretations of tumors through partnerships with Foundation Medicine, Fox Chase Cancer Center, CROs and other groups, and occasionally directly to patients (see, "N-of-One Analyzes 4,000th Tumor"). The BaseSpace app is yet another delivery method. 
 
“N-of-One intends to deliver molecular interpretation via multiple delivery methods to meet a range of market needs,” Cournoyer told Bio-IT World in an email. “Illumina, as the leading provider of tools for the analysis of genetic variation and function, has developed BaseSpace, which enables N-of-One to provide industry leading, expert molecular interpretation to a broad research and oncology community.” 
 
Informatics solutions available through BaseSpace Apps allow customers to utilize the tools from a growing community of academic, commercial, and open source providers. 
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