Bionano Genomics: BioDiscovery NxClinical Software Version 6.1
Bionano Genomics has released version 6.1 of BioDiscovery's NxClinical software.
The upgrade comes with expanded capabilities for next-generation sequencing data in genetic diseases and cancer and could improve the ability to detect more clinically relevant variants. It includes uniparental disomy functionality and an expanded sequence knowledge base for visualization and reporting of relevant genomic variants.
The firm has streamlined data interpretation by automatically calculating the relevance for many of the evidence categories described by the American College of Medical Genetics technical standards for copy number variant interpretation, which can simplify data interpretation and reduce time to reportable result.