BioDiscovery, Inc. a leader in innovative genomic data analysis software recently released NxClinical 2.1, a comprehensive software solution for molecular genetics and cytogenomics labs. NxClinical is a flexible, platform-agnostic database solution for efficient analysis, interpretation, and reporting of genomic variations and is rapidly being implemented by both hospital and independent clinical reference laboratories. CombiMatrix, a national reference laboratory specializing in cytogenomic testing for prenatal diagnosis, miscarriage analysis, and pediatric developmental disorders and Lurie Children’s Hospital in Chicago, one of the top pediatric providers in the Midwest and a recognized leader in research and education have recently transitioned to using NxClinical 2.1 software.
“The functionality of NxClinical has allowed us to simplify and standardize our interpretation of CNVs across our group of Directors. This significantly reduces the time required to review the 10+ variants identified per genome,” said Lawrence Jennings, MD, PhD, Director, HLA and Molecular Diagnostic Labs. The genetics labs at Lurie Children’s Hospital offers cytogenetic and molecular testing for diagnosis of inherited disorders and also offers testing for transplantation. CombiMatrix, a national reference laboratory specializing in cytogenomic testing for prenatal diagnosis, miscarriage analysis, and pediatric developmental disorders also recently adopted NxClinical 2.1.
“The different sample types necessitate specific analytical, review and reporting workflow requirements. Adoption of the NxClinical software has provided an efficient and secure workflow for our data batch loading and processing at our high volume clinical laboratory,” said Karine Hovanes, PhD, FACMG, Vice President of Scientific Advancement and Laboratory Director. “Its improved features support various workflow designations for different test types allowing us to analyze and store the data within each workflow. Moreover, as a result of an easy and updated access to the public reference databases as well as our own database of historical cases, the interpretation of chromosomal microarray data is extremely efficient and consistent.”
NxClinical 2.1 is a multi-user system with a central database easily accessible from anywhere. Using standardized and automated processes, NxClinical increases overall productivity and consistency in the entire workflow. In version 2.1, software improvements include the incorporation of additional databases such as OMIM® (Online Mendelian Inheritance in Man) and ClinVar, ISCN (International System for Human Cytogenetic Nomenclature) notation in reports, and HPO (Human Phenotype Ontology) terms for samples enabling scoring of variants based on genes implicated in specific phenotypes, all contributing to further speeding up of event interpretation.
Conference attendees at the ACMG Annual Meeting have the opportunity to visit BioDiscovery at booth #317 to analyze and interpret their own data through NxClinical. To learn more about NxClinical please visit http://www.biodiscovery.com/nxclinical/.