BioDiscovery - Shallow Sequencing
The MSR algorithm can also be applied to detect CNVs from shallow sequencing, including very low-level mosaic events seen in NIPS or ctDNA samples. The image below shows a sample with trisomy 21 detected using 1x WGS.
CNVs are an important contributor to disease and are required for accurate diagnosis. For clinical sequencing to be fully accepted as a replacement for microarrays and other widely used techniques, it must provide high-quality CNV information. NxClinical can easily and accurately provide that information from various approaches using NGS data.
Detect, display, and decide-all from one place.
Detect.
You can’t diagnose what you can’t see. NxClinical is the gold standard for calling CNVs from NGS data generated on any platform.
Display.
Context is everything! NxClinical provides integrated analysis and raw data visualization of CNV, SNV, and AOH simultaneously on the same screen for each patient sample.
Decide.
Make the right call in record time. AI-driven tools and extensive automation enable rapid and accurate interpretation. Active links to the latest databases keep your knowledge base fresh and up-to-date.