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May 2, 2013

Real Time Genomics, JCVI Partner to Analyze iPSCs, Validate Reference Genome Variants

  • Real Time Genomics and the nonprofit J. Craig Venter Institute (JCVI) are together working to analyze the genetic changes that induced pluripotent stem cells (iPSCs) can acquire during differentiation. The firms are also working to discover and validate variant information using the Venter human reference diploid genome and associated orthogonal information, which they will then deposit into public databases.

    “There is considerable interest in understanding the nature of de novo mutations that are acquired during reprogramming and differentiation of iPSCs,” JCVI scientific director Mark Adams said in a statement. “These mutations might affect how iPSCs behave as disease models and could limit the therapeutic use of these cells, but there are many pitfalls in analyzing sequence data to locate and interpret these rare mutations.”

    Through this collaboration, investigators at JCVI will use Real Time Genomics’ platform. Researchers at both organizations will work together to identify SNPs, indels, structural variants, and de novo mutations in data from both the iPSC and reference diploid genome projects. Financial terms of the agreement were not disclosed.

    “The stem cell collaboration with JCVI is an exciting opportunity to move our technology into new areas as cell lineage progression studies are becoming important in a wide range of NGS [next-generation sequencing] applications,” said Francisco De La Vega, vp of Genome Sciences at Real Time Genomics. “At the same time, a problem in clinical applications of sequencing is the difficulty knowing whether sequencing data and results meet a specific accuracy criteria. Because JCVI has considerable orthogonal information related to the Venter reference genome, … there is an opportunity to contribute a standard back to the community to improve the sensitivity and specificity of human disease applications using NGS.”


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