%0 Journal Article
%T Technical Validation of a Next-Generation Sequencing Assay for Detecting Actionable Mutations in Patients with Gastrointestinal Cancer
%A Alexander Lezhava
%A Arun G. Devasia
%A Cassandra Z. He
%A Christopher W. Wong
%A Cindy E. Ching
%A Clarinda Chua
%A Daniel S.W. Tan
%A Dharuman Perumal
%A Dianne Y.S. Poh
%A Hui Maan Seah
%A Iain B. Tan
%A Jack L. Ow
%A James Z.Z. Qu
%A Katie H.T. Cheung
%A Lionel Lim
%A Lu Pan
%A Patrick Tan
%A Pauline C. Ng
%A Qiangze Hoi
%A Rachel Ten
%A Seow Eng Lee
%A Shimin Ang
%A Simeen Malik
%A Sophie R. Wang
%A Tony Lim
%A Yang Sun Chan
%A Yasmin M. Bylstra
%J The Journal of Molecular Diagnostics
%D 2016
%R 10.1016/j.jmoldx.2016.01.006
%X Targeted next-generation sequencing is becoming increasingly common as a clinical
diagnostic and prognostic test for patient- and tumor-specific genetic profiles as
well as to optimally select targeted therapies. Here, we describe a custom-developed,
next-generation sequencing test for detecting single-nucleotide variants (SNVs) and
short insertions and deletions (indels) in 93 genes related to gastrointestinal cancer
from routine formalin-fixed, paraffin-embedded clinical specimens. We implemented
a validation strategy, based on the College of American Pathologists requirements,
using reference DNA mixtures from cell lines with known genetic variants, which model
a broad range of allele frequencies.
%U https://jmd.amjpathol.org/article/S1525-1578(16)00049-0/fulltext