BioDiscovery launches NxClinical 4.0, a system analzying and interpreting CNV, SNV, and AOH

Nov 09, 2017 Mark

Press Release ( - HAWTHORNE, Calif. - Nov 09, 2017 - BioDiscovery, Inc. a leader in integrated software solutions for genomics data analysis launched, at the 2017 American Society of Human Genetics Meeting, a unique software solution for interrogation of copy number, sequence variants, and allelic changes obtained from a single NGS assay. NxClinical 4.0 is a revolutionary system that brings together cytogenetics and molecular genetics to increase diagnostic yield while decreasing costs.

Typical testing procedures involve isolated analyses of copy number/allelic changes and sequence variant changes, and when both are required they involve multiple tests in a sequential manner prolonging return of a diagnosis. Not only does this increase costs in obtaining, maintaining, and training on different systems or reagents for wet lab work and instrumentation for analysis, but it can also lead to overlooking compound events in a single case. NxClinical 4.0 derives copy number and AOH changes directly from the same NGS assay used for sequence variant analysis. The system then incorporates all these genomic variations into a single database system where a compound heterozygous event can easily be detected with interactive browser view and advanced filtering schemas that quickly narrow down the list of potential causal variants.

“Obtaining copy number from sequencing data is now gaining momentum in the clinical market. We developed this capability several years ago and it has been available in our research product, Nexus Copy Number, for many years. Since then, the algorithm has evolved to its 4th generation with good enough performance to be incorporated into NxClinical, to enable clinical labs to achieve a single assay system for genetic testing,” said Dr. Soheil Shams, President, BioDiscovery, Inc. “Several customers who have been using NxClinical 4.0 beta are extremely excited about the capability and pleased with the results that will allow them to streamline their workflow to a single NGS assay.”

On using NxClinical 4.0, Dr. Ingrid Simonic, Head of Cytogenetics and Molecular Genetics, Cambridge University Hospitals, UK, states, “We constantly want to increase our diagnostic efficiency and improve the clinical utility of our tests. With rapidly advancing genomic technologies, replacement of multiple testing strategies using different methodologies by NGS technologies is required for a large proportion of clinical referrals. NxClinical allows for combined analysis of DNA copy number changes or regions of homozygosity with single nucleotide polymorphisms analysis, incorporating all variants in one view and consolidating multiple tests to a single test. This provides numerous benefits such as identification of compound heterozygous events as well as rapid results provision which is essential for improved patient care. Now that I’ve started using NxClinical, I just can’t go back to analyzing all these variants separately the way I used to.”

NxClinical 4.0 incorporates BioDiscovery’s BAM MSR algorithm to derive copy number and allelic event changes from WES, WGS, targeted panels, and low pass sequencing data. The software has extensive interactive visualization tools showing read depth, individual reads with base changes, pseudo-probes log ratio plots, family/trio analysis, and integrated public reference databases. The robust filtering pipeline including virtual panel filters and automated calling via a decision tree support system quickly narrows down the list of potential causal variants and assists with avoiding display of incidental findings.

NxClinical 4.0 is the first comprehensive case review and reporting system with a gold-standard CNV calling algorithm allowing analysis and interpretation of CNV, SNV, and AOH from a single uxpcd NGS platform. The system also derives copy number from microarrays while incorporating sequence variants from VCF/JSON files providing for storage and analysis of both microarray and NGS data in a single repository and offering 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. NxClinical 4.0 is a multi-user system with audit trailing 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 4.0, 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.

Contact information:

Shalini Verma

MarCom Manager


Source : BioDiscovery, Inc. Follow on Google News
Business Info :
BioDiscovery, Inc.
United States


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