Copy number variation detection using exome sequencing data

Copy number variation (CNV) is a significant source of human genetic diversity and it’s also known to sometimes cause diseases. CNVs are generally identified using array based approaches. However, with the development of next generation sequencing techniques there is now a great need for analysis tools that can be used to identify CNVs from sequence data. In this research, we have developed a kernel smoothing algorithm to identify CNVs based on exome sequencing data from parent-offspring trios

Keywords:

CNV , Next generation sequencing , Smoothing algorithm