How is Allele Specific Copy Number Analysis Performed?
The process typically involves several steps: 1. Sample Collection and DNA Extraction: Tumor samples and matched normal tissues are collected, and DNA is extracted. 2. Genotyping and Sequencing: High-throughput sequencing or SNP arrays are used to genotype the samples, providing data on allele frequencies. 3. Bioinformatic Analysis: Advanced algorithms analyze the sequencing data to determine the copy number of each allele, taking into account factors such as tumor purity and ploidy. 4. Interpretation: The results are interpreted to identify regions of the genome with CNVs and allelic imbalances, which may include gains, losses, or LOH.
