New NxClinical 4.1 System allows combined analysis and interpretation of genomic variants.
Press Release Summary:
BioDiscovery Inc.'s NxClinical 4.1 system is a software solution for the integration of copy number, sequence variants, and allelic changes obtained from microarray and NGS technologies. The updated software features trio analysis and support for single recessive inheritance tests and sequence variants tests, and now allows for the interpretation of genomic variants of any size. It also offers searchable databases. This software is ideal for scientists and laboratories working in disease elimination and genomics fields.
Original Press Release:
BioDiscovery launches NxClinical 4.1, a comprehensive system allowing interpretation of variants of any size from SNVs to large CNVs
El Segundo, CA, May 1, 2018 – BioDiscovery, Inc. a leader in integrated software solutions for genomics data analysis launched NxClinical 4.1, a unique software solution for integration of copy number, sequence variants, and allelic changes obtained from microarray and NGS technologies. NxClinical 4.1 allows combined analysis and interpretation of all genomic variants on a single, platform agnostic system. New features include enhancements to the sequence variant interpretation engine, filtering schemas to further narrow the list of causative variants, trio/family analysis and support for the latest technologies including Illumina Infinium®Global Screening Array and Thermo Fisher CytoScan™ XON Suite.
“We are excited to be at the forefront of the rapidly evolving nature of this field,” said Dr. Soheil Shams, President, BioDiscovery, Inc. “Typically, large and small variations have been analyzed via different software, pipelines, and departments but various factions are starting to merge together. NxClinical incorporates multiple technologies and platforms and allows interpretation of genomic variants of any size from single nucleotide to large copy number changes. The software also detects copy number and AOH from sequencing data allowing labs to consolidate tests to a single assay. NxClinical 4.1 adds improvements to many areas of the software including trio analysis allowing extended family support and single recessive inheritance test for compound CNV and sequence variant events as well as identification of parent of origin for UPD and CNV events.”
Todd Ackley, Manager, Michigan Molecular Genetics Laboratory and Michigan Biochemical Genetics Laboratory, an Early Access User of NxClinical 4.1 stated, “My CAP/CLIA clinical lab has used BioDiscovery CNV software since 2012. I have evaluated many CNV analysis software programs and the BioDiscovery software always has been the best choice for my lab. I have watched the progression of their software development from Nexus Copy number to NxClinical 4.1 and have always been satisfied with their improvements. BioDiscovery listens to their customers and utilizes this information to improve and refine their software for clinical laboratories. NxClinical 4.1 continues to be intuitive to use, has a searchable database, and has new desirable features. I now use NxClinical 4.1 to analyze CNV data from the CytoScan XON array. I am able to define gene panels and only analyze the genes from a targeted list. Also, I like that NxClinical can be used to analyze NGS data to make CNV calls and I am in the process of evaluating this new feature.”
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. 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 is a multi-user interpretation and reporting system with audit trailing, integration of multiple reference databases along with automatically generated inhouse 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 4.1, or to request a demo, please visit www.biodiscovery.com/nxclinical.
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 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.
