Copy number variations
What are the mathematical principles that can be employed in copy number variation detection and algorithms?
Copy number variations (CNVs) are the gains or losses of genomic regions which range from 500 bases upwards in size. Whole-genome studies have revealed the presence of large numbers of CNV regions in human and a broad range of genetic diversity among the general population. CNVs have been the focus of many recent studies because of their roles in human genetic disorders.