Somatic CNV callers typically follow a series of steps to detect CNVs:
Data Preprocessing: This involves aligning sequencing reads to a reference genome and removing duplicates. Segmentation: The genome is divided into segments to identify regions with consistent copy number changes. Normalization: Correcting for biases and variations in the data, such as GC content and sequencing depth. CNV Calling: Statistical algorithms are applied to identify regions with significant copy number changes. Annotation: CNVs are annotated with relevant biological information, such as affected genes and pathways.
