Exome sequencing in phaeochromocytoma/paraganglioma

In this study, McInerney-Leo et al. have assessed whether whole exome sequencing (WES), using an off-the-shelf exome capture platform rather than designing individual targeted assays, is a sensitive, time- efficient and cost-effective way to offer genetic testing in a population of individuals with established diagnosis of PCC/PGL. They also evaluated the target capture of the currently available exome capture platforms for exons of the known PCC/PGL genes. They demonstrate that WES accurately diagnosed all mutations in all 11 patients with PCC/PGL in whom mutations had been detected previously by Sanger sequencing. Further, they were able to discriminate between disease-associated mutations and irrelevant variants. However, they caution that appropriate choice of capture platform is critical to ensure adequate coverage of all exons of known PCC/PGL genes. Read full article at McInerney-Leo et al. (2014) Clinical Endocrinology  DOI: 10.1111/cen.12331
Source: Society for Endocrinology - Category: Endocrinology Source Type: news