Clinical

BioDiscovery provides the most comprehensive solutions for analyzing, managing, and visualizing genomic data to assist labs to be more efficient and consistent in their clinical reporting workflow.

 

The American College of Medical Genetics (ACMG) recommends chromosomal microarrays as first-tier clinical diagnostic test for detection of genetic imbalances for individuals with developmental delay/intellectual disabilities, autism spectrum disorders (ASD) or multiple congenital anomalies (MCA). While microarrays focus on larger chromosomal abnormalities (copy number gain/losses), next-generation sequencing (NGS) based testing provides information on smaller changes (small duplications/deletions and single nucleotide changes) to help in clinical diagnosis and management of diseases. Together, these technologies are being applied to a range of constitutional conditions as well as oncology. High-quality and high-performance software solutions are an essential component of clinical genetic laboratories and software advances are also now blurring the lines between the two factions such that NGS can now be used to ascertain copy number gains and losses, potentially replacing microarrays.

NxClinical is the most comprehensive software solution for cytogenetic and molecular genetic laboratories utilizing microarray or NGS based tests. The system uses BioDiscovery’s gold-standard copy number calling algorithm to detect copy number and AOH changes from microarrays as well as sequencing (whole genome, whole exome, targeted NGS panels) technologies. It integrates large chromosomal aberrations with smaller single nucleotide and indel changes to provide a comprehensive single package solution for interpretation and reporting of all genomic aberrations. With BAM MSR algorithm for detecting CNV from NGS technologies, labs can consolidate testing to a single assay with NxClinical.

 

NxClinical

The system provides an integrated workflow from raw data to clinical interpretation assistance and reporting that is easily customizable, efficient, and scalable to meet any lab’s needs regardless of size, throughput, or technology. Curated, integrated reference databases, dynamic filtering, phenotype matching and scoring algorithms, and visualization with an integrated genomic browser assist with variant assessment in a multi-user environment. With a clinical focused design, it offers multiple levels of automation as well as extensive audit trails to ensure consistent and high-quality reporting.

NxCLINICAL

NxClinical is a comprehensive genomic software, improving productivity and consistency in clinical labs.

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