BioDiscovery - Whole Genome Sequencing Tools
From CNVs from NGS
As described in Chaubey et al., Journal of Molecular Diagnostics, vol. 22, No. 6 June 2020, they used 10x WGS and validated that the NxClinical algorithm detected all CNVs and AOH that were found by high-resolution SNP arrays. Figure 2. shows a small exonic deletion detected using 10x WGS with the MSR algorithm. With higher depth NGS, smaller CNVs can be detected and integrated with sequence variants to provide a holistic view of the sample. In Figure 3., the ideogram shows regions of copy number gain (blue bars), loss (red bars), AOH (yellow shading), Allelic Imbalance (purple shading), as well as various types of Sequence Variants (e.g., SNV, In/Del, etc.) as colored “lollipops”.
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Software Overview
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.
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