Applications that determine the number of copies of a particular DNA sequence in a genome are essential tools in genomic research. These tools analyze data derived from techniques like microarrays or next-generation sequencing to quantify variations from the expected diploid number of two copies. For example, an application might detect amplifications (increased copy numbers) or deletions (decreased copy numbers) of specific genes or chromosomal regions.
Quantifying genomic variations is crucial for understanding genetic diseases, including cancer, developmental disorders, and inherited syndromes. Changes in gene dosage, due to altered copy numbers, can significantly impact gene expression and protein levels, leading to phenotypic variations and disease. The development and refinement of these analytical methods have provided invaluable insights into the complex relationship between genomic structure and function, driving advances in diagnostics and personalized medicine.
