BioDiscovery’s NxClinical software augments PerkinElmer Genomics newborn screening and genomic testing services in labs around the world

El Segundo, CA, November 6, 2018 –BioDiscovery  Inc., a leader in integrated software solutions for genomic data analysis, announced today that PerkinElmer Genomics has selected the company’s NxClinical software as its choice for genomic data analysis for its services.

PerkinElmer Genomics is a worldwide leader in providing families and healthcare professionals access to insightful genomic data when making difficult medical decisions. PerkinElmer Genomics was seeking a software solution to enable analysis of Copy Number Variations (CNV) from Next Generation Sequencing (NGS). BioDiscovery software solutions are considered by industry insiders to be the gold standard in CNV analysis from NGS, and these solutions will enable PerkinElmer Genomics to offer fast and accurate CNV insights from Whole Genome Sequencing, Whole Exome Sequencing, and targeted panels.


“We are excited to have been selected by PerkinElmer Genomics as their choice of genomic software solutions,” said Dr. Soheil Shams, President, BioDiscovery, Inc. “As a leader in genetic and genomic testing, PerkinElmer needs data analysis solutions that offer integrated, comprehensive, and unique capabilities such as analyzing NGS data to make CNV calls. NxClinical incorporates multiple technologies and platforms and allows interpretation of genomic variants of any size from single nucleotide to large copy number changes.” NxClinical software solutions offer integration of copy number, sequence variants, and allelic changes obtained from microarray and NGS technologies. NxClinical also allows combined analysis and interpretation of all genomic variants on a single, platform agnostic system.

“As a CLIA lab, PerkinElmer Genomics requires a system that enables an integrated process with the highest quality standards. We take pride in developing world class genomics-based products, and have adhered to strict quality standards when bringing these products into the market,” said Dr. Madhuri Hedge, VP and Chief Scientific Officer, PerkinElmer Genomics. “We’ve now integrated BioDiscovery’s NxClinical into our pipeline for the CNGnome test and are pleased with the results and the efficiency of the entire workflow.”

NxClinical is the first comprehensive clinical case review and reporting system allowing analysis and interpretation of CNV, SNV, and AOH from a single NGS platform. The system also derives copy number from microarrays and incorporates sequence variants providing for storage, analysis and interpretation of variants of all sizes in a single repository and offers a complete view of a sample under review. This allows labs to consolidate tools into a single system that scales and grows as a lab expands its offerings, eliminating the time consuming and costly process of training staff on multiple software systems, maintaining separate databases, and manually integrating test results for a single sample. Using standardized and automated processes with NxClinical, labs can increase overall productivity and consistency in the entire workflow allowing for a rapid and accurate case review process.

About BioDiscovery, Inc.
BioDiscovery, Inc. is dedicated to the development of state-of-the-art software products for life science research as well as clinical applications. The company’s mission is to enable scientists to eliminate disease and suffering through application of computational technologies and translating these findings directly and rapidly to clinical use. From its inception in 1997, BioDiscovery has been an innovative leader in the genomics field having introduced the first dedicated commercial software tool for analyzing microarray images. Since then, innovation has continued to be a top priority. BioDiscovery’s passion to make a difference has further extended the company’s reach into creating the most comprehensive enterprise-wide system enabling research findings to translate into clinical applications and make direct impact on patient care. For more information, visit http://www.biodiscovery.com.

Please note the following:
The BioDiscovery software tools referenced are designed to assist clinical researchers and are not intended as primary diagnostic tools. It is each lab’s responsibility to use the software in accordance with internal policies as well as in compliance with applicable regulations.

Contact information:
BioDiscovery, Inc.
+1 310-414-8100
MarCom@biodiscovery.com

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