EXOME SEQUENCING WHOLE*

Whole Exome Sequencing (WES), sequences the complete coding region of the genome. It is designed to examine all the coding regions and splice junctions of the genome. This method can be used to identify variations in the protein-coding region of any gene, rather than in only a select few genes. Because most known disease causing mutations occur in exons, whole exome sequencing can be used more effectively than whole genome sequencing. Whole Exome Analysis can be used to identify variants inherited from the parents causing recessive disease or dominant disease. Additionally, de novo variants that occur in the offspring but are not present in either of the parents can also be detected