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Welcome back to every one who visited us at AMP 2017 in Salt Lake City, Utah! Hope you enjoyed the great networking events, beautiful city center, and of course, our ever popular BioDiscovery “SNP HAPPENS!” T-shirts!

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We highlighted our new algorithm for copy number estimation from whole exome sequencing data in tumor samples at our poster.  The poster showed results from our BAM (multiscale reference) algorithm in Nexus Copy Number for CNV estimation from WES in prostate cancer samples use selected tumor samples as a reference.; the results were comparable to that from SNP array.

At our in-booth demos, we showed the benefits of integrated review of CNV, AOH, and Sequence Variants using our NxClinical software system which handles both array and NGS data in a single database system.  This not only provides the most comprehensive interpretation but also consolidates use of multiple tools into one tool saving time and money. 

NxClinical 4.0 new feature highlights:

  • CNV and AOH from NGS (WES, WGS, targeted panels, shallow sequencing)
  • Integrated review of CNV, AOH, SNV from a single NGS assay
  • Virtual gene panel filtering - view and report on only those genes/region in a list
  • Enhanced annotations for seq var and new dynamic filtering UI

Looking forward to seeing everyone again at AMP 2018 in sunny San Antonio, Texas.