Bionano's NxClinicalTM Software is the leading copy number variation (CNV) analysis software solution for cytogenetics and molecular laboratories. The latest software (v6.2) release adds three measures of genomic instability for homologous recombination repair deficiency (HRD) in solid tumors:
- Loss of heterozygosity (LOH)
- Telomeric Allelic Imbalance (TAI)
- Large-Scale State Transitions (LST)
There are three processing steps involved in calculating these scores:
- Detecting CN and LOH events from arrays and next-generation sequencing (NGS)
- Merging and smoothing similar event types
- Selecting the resulting calls or breakpoints that comply with each scar’s specifications
NxClinical provides an automated, totaling of LOH, TAI, and LST allowing for rapid data analysis during case review. Results must then be verified by a qualified clinician.
To learn more about this NxClinical feature, download our free white paper: Automating Genomic Scar Analysis for HRD: A Solution for Clinical Research Labs
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