About
Directly call a CNV in target regions and avoid the cost and turn-around time of additional CMA or MLPA testing.
Clinical genetic testing often requires looking for and interpreting Copy Number Variants (CNV) as well as small point mutations. While NGS based gene panels and exome tests have become the best practice assay for many types of genetic tests, CNVs must be acquired using a different paradigm.
Golden Helix has pioneered an industry leading CNV calling algorithm that operates on existing clinical NGS gene panel, exome and whole genome NGS data. Along with the calling of CNV events, the entire workflow is managed inside VarSeq’s clinical interpretation workflow. This integration enables CNV events to be considered alongside the annotated and filtered NGS small variants and incorporated into clinical reporting using VSReports.
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VarSeq variant table with VS-CNV
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Select VCF files for Import in VS-CNV
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Adding BAM Files in VS-CNV
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Ratio and Z-score for a duplication event in BRCA2 in VS-CNV