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NIH's Undiagnosed Disease Program to Use Cartagenia's Software for Variant Assessment, Reporting


NEW YORK (GenomeWeb) – Cartagenia said this week that the National Institutes of Health's Undiagnosed Disease Program is using a customized version of its Bench Lab platform, a software solution for assessing and reporting on genetic variants, to analyze mutations that are identified in exome sequencing datasets.

The NIH tapped Cartagenia to develop a tailored solution for the UDP last year, the company said. In the last year, teams at both places have contributed expertise and features to the software development process. "We've been able to further extend our product with features relevant to undiagnosed and complex inherited disease," Herman Verrelst, Cartagenia CEO, said in a statement. He added that the company intend to incorporate these new features into the commercial version of Bench Lab so that "the results from our work with NIH is available to our entire customer base."

The list of new features includes tools to analyze complex families, an advanced module for compound heterozygosity analysis that takes into account phenotype and family structure in variant assessment, as well as tools to deal with very large reference cohorts, according to Steven Van Vooren, one of Cartagenia's founders. The features provide "unique added value for customer labs dealing with rare disease," he said. The company will demonstrate these features at this year's Association for Molecular Pathology meeting next month in Maryland.

The collaboration between NIH and Cartagenia has been extended into 2015. The partners will work on developing and validating additional components for the system.