In addition to epigenetic information (DNA methylation profiles), it is possible to extract genetic information (CNV profiles) from DNA methylation microarrays, without the need to run a separate genomic assay. Extracting copy number information from DNA methylation arrays is based on the assumption that the sum of the intensity values of the unmethylated and methylated signals are representative of the copy-number state of a given genomic location. We use the conumee 2.0 package for copy-number variation analysis and visualization.
How are the tumor copy number variation (CNV) profiles generated for the Classifier report?
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About the Author: Areeba Patel
Areeba Patel is the Head of New Technologies at Heidelberg Epignostix. Her expertise lies in molecular pathology, bioinformatics and AI. Areeba’s work focuses on molecular diagnostics solutions using cutting-edge sequencing and computational histopathology techniques.
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