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El Segundo, CA, June 1, 2019 – BioDiscovery, Inc. a leader in innovative integrated genomic software solutions announced release of NxClinical 5.0, a unique software solution for integrated analysis of copy number, sequence variants, and allelic changes obtained from multiple technologies. NxClinical 5.0 addresses the changing dynamics in the clinical genomics field where multiple technologies and modalities are merging together enabling increased clinical knowledge and greater efficiency. This unique software system increases diagnostic yield by combining copy number, allelic event, and sequence variants for integrated analysis and interpretation.

NxClinical 5.0 includes a host of new features that enable rapid and integrated interpretation that uncover events missed by single modality solutions. The well-regarded BAM MSR algorithm allowing copy number estimation from sequencing data has been improved to provide better results from targeted regions (panels and exome data) and an integrated annotator provides for a single step from raw VCF files to classification within the NxClinical pipeline. Several new features enhance the interpretation process: support for mosaicism including aberrant cell fraction calculation, multiple gene panel designs including phenotype-based, gene prioritization via a proprietary scoring schema, and the ability to filter common events seen in past cases.

“We are really pleased to be at the forefront of this new model in clinical genomic data analysis,” said Dr. Soheil Shams, President, BioDiscovery, Inc. “The traditional method has been to evaluate larger structural variations and smaller single to few base changes in separate silos which often leads to missing causative compound events. We’ve seen many examples where cases that had previously gone through a lengthy diagnostic odyssey were finally solved with NxClinical. Our users have really embraced this new integrated concept and we are eagerly sharing this valuable knowledge with others in the field with the goal of achieving more diagnoses and in a shorter timeframe.”

NxClinical is the first comprehensive clinical case review and reporting system with a gold-standard CNV calling algorithm (BAM MSR) 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.

A single software for multiple types of variants 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. NxClinical is a multi-user interpretation and reporting system with audit trailing, integration of multiple reference databases along with automatically generated in-house database of past cases to aid with interpretation, and a central (on-site or cloud-based) database easily accessible from anywhere. Using standardized and automated processes, NxClinical increases overall productivity and consistency in the entire workflow allowing for a speedy case review process.

To learn more about NxClinical 5.0, or to request a demo, please visit

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

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.