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Personal Genome Diagnostics Inc. Licenses Genome-Mapping Technology from Johns Hopkins University and Expands Its Cancer Genome Analysis Business
Date:3/7/2013

for cancer genomics, and we expect to be announcing a number of collaborations and partnerships in the coming months as we bring our advanced capabilities to the many researchers and drug developers who are rapidly advancing the field." 

Newton added, "We also are using our CLIA-certified laboratory and our years of genomic know-how to provide information on tumor-specific mutations to cancer patients and their physicians.  As the utility of cancer genomics evolves, we are considering a number of options for expanding our ability to serve the growing demand for patient-specific analyses that can help inform treatment decisions."

As part of its services, PGDx employs cancer exome analysis, an approach the company pioneered, to capture and selectively analyze the coding regions of the genome, enabling the comprehensive and reliable genome-wide identification of cancer-related mutations in all of the approximately 20,000 relevant genes.  PGDx also provides in-depth computational analyses based on its proprietary methodologies to differentiate between unimportant and cancer-associated mutations.  

The patented DK technology enables quantitative analysis of DNA copy number at high resolution with exceptional sensitivity.  This method can identify large chromosomal changes in human cancer cells, along with amplifications and deletions, including those in regions not previously known to have been altered.  DK has enabled a number of landmark discoveries in human cancer, such as identification of gene amplification of the therapeutically targetable OTX2 gene in medulloblastoma, detection of thymidylate synthase amplification as a mechanism of chemotherapy resistance in colorectal cancer and comprehensive copy number analyses in large-scale cancer genome analyses.  The method can also be applied to other conditions, including analyses of chromosomal abnormalities in hereditary disorders.  Digital Karotyping comple
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