%0 Journal Article
%T Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing
%A Cavatina Truong
%A Hui Yu
%A Jing Wang
%A John J. Mitchell
%A Klaas J. Wierenga
%A Lan Qin
%A Lee-Jun C. Wong
%A Victor Wei Zhang
%A William J. Craigen
%A Xia Tian
%J The Journal of Molecular Diagnostics
%D 2016
%R 10.1016/j.jmoldx.2016.01.002
%X 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 800กม.
%U https://jmd.amjpathol.org/article/S1525-1578(16)00039-8/fulltext