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BioDiscovery was invited as a partner to exhibit the NxClinical software with Philips at the American Molecular Pathology (AMP) Annual Conference, held last week in Charlotte, North Carolina. Philips recently launched IntelliSpace Genomics platform, a software tool that processes and integrates clinical, imaging, pathology, and genomic information for the diagnostics of cancers in a clinical setting.  

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Sequence variants from NGS data are the focus of the Philips software.  Its workflow annotates and interprets the variants for clinical outcomes.  BioDiscovery's NxClinical has been an established software tool in clinical labs for copy number variants analysis and reporting. Working together, the IntelliSpace Genomics platform can import and integrate the copy number variants from NxClinical with the sequence variants in its database to have a complete picture for the cancer cases.

We also presented a poster, "Copy Number Estimation from Targeted and Shallow Sequencing in Cancer Samples", which attracted quite a few conference attendees.  The new method available soon in our Nexus Copy Number software, BAM (MultiScale Reference), generated some quality results from shallow sequencing (1x or lower of coverage), targeted panel, as well as WES/WGS with normal depth of coverage.  An example of a shallow WGS PGD sample (0.1x) below shows large copy number events on 3 different chromosomes.

ANT08-ABNORMAL_2_S11 Genome.jpgThe results are looking good so keep an eye out for the new version of Nexus Copy Number that will have this new algorithm.