%0 Journal Article
%T Analytical Validation of a Hybrid Capture¨CBased Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA
%A Allison Welsh
%A Alyssa Tsiros
%A Amy Donahue
%A Bernard Fendler
%A Daniel S. Lieber
%A Dean Pavlick
%A Doron Lipson
%A Eric Peters
%A Erica Schleifman
%A Garrett M. Frampton
%A Geneva Young
%A Geoff A. Otto
%A Jason D. Hughes
%A Jeffrey P. Gregg
%A Jeffrey S. Ross
%A Jie He
%A Jill M. Spoerke
%A Jon H. Chung
%A Lauren Young
%A Mandy Zhao
%A Mark Bailey
%A Mark Kennedy
%A Mark Lackner
%A Michael Coyne
%A Niru Chennagiri
%A Philip J. Stephens
%A Shan Zhong
%A Siraj M. Ali
%A Steven Gendreau
%A Steven Roels
%A Tariq Mughal
%A Timothy Brennan
%A Travis A. Clark
%A Vincent A. Miller
%A Virginia Breese
%J The Journal of Molecular Diagnostics
%D 2018
%R 10.1016/j.jmoldx.2018.05.004
%X Genomic profiling of circulating tumor DNA derived from cell-free DNA (cfDNA) in blood
can provide a noninvasive method for detecting genomic biomarkers to guide clinical
decision making for cancer patients. We developed a hybrid capture¨Cbased next-generation
sequencing assay for genomic profiling of circulating tumor DNA from blood (FoundationACT).
High-sequencing coverage and molecular barcode¨Cbased error detection enabled accurate
detection of genomic alterations, including short variants (base substitutions, short
insertions/deletions) and genomic re-arrangements at low allele frequencies (AFs),
and copy number amplifications.
%U https://jmd.amjpathol.org/article/S1525-1578(17)30527-5/fulltext