Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

The identification of mosaicism is important in establishing a disease diagnosis, assessing recurrence risk, and genetic counseling. Next-generation sequencing (NGS) with deep sequence coverage enhances sensitivity and allows for accurate quantification of the level of mosaicism. NGS identifies low-level mosaicism that would be undetectable by conventional Sanger sequencing. A customized DNA probe library was used for capturing targeted genes, followed by deep NGS analysis. The mean coverage depth per base was approximately 800×.

Source: Journal of Molecular Diagnostics - March 1, 2016 Category: Pathology Authors: Lan Qin, Jing Wang, Xia Tian, Hui Yu, Cavatina Truong, John J. Mitchell, Klaas J. Wierenga, William J. Craigen, Victor Wei Zhang, Lee-Jun C. Wong Tags: Regular Article Source Type: research