Copy Number Variation
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CNV Ratio
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Should be interpreted as the fold amplification (gain) as detected by the assay. CNV specific amplicon (MET) coverage levels are compared to non-CNV amplicon coverage.
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P-value
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Significance of CNV Ratio measurement based on amplicon coverage variability (MAPD level) and magnitude of the pairwise coverage differences between the CNV and non-CNV amplicons. High coverage variability will result in less significant p-values.
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Fusion detection
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Nomenclature
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Each reported fusion target follows a specific naming convention such that the 5'- and 3'‑genes are reported along with donor and acceptor exon numbers. Lastly, a COSMIC ID or NCBI transcript accession number is added to the end of each target name. For example, EML4-ALK.E13A20.COSF463 identifies the EML4-ALK fusion variant with exon 13 of EML4 fused to exon 20 of ALK.
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Fusion QC genes
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Two non-fused process control genes (HMBS and TBP) that have been shown to be consistently detected in cell-free nucleic acid extracts are included in the assay to inform quality of fusion variant calls.
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Analysis detail
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MET Exon 14 Skipping Assay
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Nomenclature
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One assay is specific to the exon 14 skipping detection in the MET gene called MET-MET.M13M15.
Two additional wild type assays are provided to inform the quality of a MET exon 14 skipping variant call. These are named MET.E6E7.WT and MET.E11E12.WT.
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Analysis detail
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