Benzinga | Dec 16, 2021 08:30AM EST

Bionano Genomics Announces Launch Of Version 6.1 Of BioDiscovery's NxClinical Software For Genome Analysis With Expanded Capabilities For Visualization, Interpretation And Reporting Of Next-Generation Sequencing Data In Genetic Diseases and Cancer

Bionano Genomics, Inc. (BNGO), provider of optical genome mapping (OGM) solutions on the Saphyr(r) system and the leading software for genomic data visualization, interpretation and reporting, today announced the launch of version 6.1 of BioDiscovery's NxClinical software with expanded capabilities for next-generation sequencing (NGS) data in genetic diseases and cancer. NxClinical is an industry-leading, platform-agnostic software solution, which integrates NGS and microarray data designed to provide analysis, visualization, interpretation and reporting of copy number variants (CNV), single-nucleotide variants and absence of heterozygosity across the genome in one consolidated view.



"This new version is designed to address requests from our NxClinical customers around the world seeking to see more of what matters in their NGS data," commented Soheil Shams, PhD, Chief Informatics Officer of Bionano Genomics. "We are committed to helping customers reveal more clinically relevant variants from genomic data across multiple platforms with a streamlined workflow that can allow for optimal turnaround time. This software upgrade represents another step further as we continue toward laying the groundwork for our goal of integrating OGM data with NGS data to provide what we believe can become the most comprehensive view of genome variation."

We believe version 6.1 significantly improves the ability of NxClinical to detect more clinically relevant variants from NGS data with the inclusion of uniparental disomy functionality and the expanded sequence knowledgebase for visualization and reporting of relevant genomic variants. In addition, data interpretation has been streamlined with the automated annotation of clinically relevant variants using the American College of Medical Genetics and Genomics (ACMG) technical standards. This feature automatically calculates the relevance for many of the evidence categories described by the ACMG technical standards for CNV interpretation, which can simplify data interpretation and reduce time to reportable result.

"At Bionano, we are working to transform the way the world sees the genome to elevate human health and wellness," said Erik Holmlin, PhD, President and CEO of Bionano Genomics. "Software is the primary way our customers interact with their data and experience our products. Our goal is to increase the number of Bionano subscribers using NxClinical software to create a network effect where customers can obtain more meaningful results from their NGS and microarray data today so that in the future they can more easily implement OGM within the same software tool to see more genomic variants that matter."