@article{b6d97ab003374a1f8827341321f040e6,
title = "Multilaboratory Assessment of a New Reference Material for Quality Assurance of Cell-Free Tumor DNA Measurements",
abstract = "We conducted a multilaboratory assessment to determine the suitability of a new commercially available reference material with 40 cancer variants in a background of wild-type DNA at four different variant allele frequencies (VAFs): 2%, 0.50%, 0.125%, and 0%. The variants include single nucleotides, insertions, deletions, and two structural variations selected for their clinical importance and to challenge the performance of next-generation sequencing (NGS) methods. Fragmented DNA was formulated to simulate the size distribution of circulating wild-type and tumor DNA in a synthetic plasma matrix. DNA was extracted from these samples and characterized with different methods and multiple laboratories. The various extraction methods had differences in yield, perhaps because of differences in chemistry. Digital PCR assays were used to measure VAFs to compare results from different NGS methods. Comparable VAFs were observed across the different NGS methods. This multilaboratory assessment demonstrates that the new reference material is an appropriate tool to determine the analytical parameters of different measurement methods and to ensure their quality assurance.",
author = "He, {Hua Jun} and Stein, {Erica V.} and Yves Konigshofer and Thomas Forbes and Tomson, {Farol L.} and Russell Garlick and Emiko Yamada and Tony Godfrey and Toshiya Abe and Koji Tamura and Michael Borges and Michael Goggins and Sandra Elmore and Gulley, {Margaret L.} and Larson, {Jessica L.} and Lando Ringel and Haynes, {Brian C.} and Chris Karlovich and Williams, {P. Mickey} and Aaron Garnett and Anders St{\aa}hlberg and Stefan Filges and Lynn Sorbara and Young, {Mathew R.} and Sudhir Srivastava and Cole, {Kenneth D.}",
note = "Funding Information: Supported in part by an interagency agreement between the National Cancer Institute and the National Institute of Standards and Technology; NIH Small Business Innovative Research grant 12475715 (J. L. L., L.R., and B.C.H.); NIH grant CA210170 (M.G.); Sahlgrenska Academy (ALF) at University of Gothenburg grant 716321; Knut and Alice Wallenberg Foundation, Wallenberg Center for Molecular and Translational Medicine, University of Gothenburg; Swedish Cancer Society grant 2016-438; Swedish Research Council grant 2017-01392; Swedish Childhood Cancer Foundation grant 2017-0043; the University of North Carolina (UNC) Department of Pathology and Laboratory Medicine; the University Cancer Research Fund; and the UNC Integrated Translational Science Center award NCI 5-U10CA181009-05. Supported in part by an interagency agreement between the National Cancer Institute and the National Institute of Standards and Technology; NIH Small Business Innovative Research grant 12475715 (J. L. L., L.R., and B.C.H.); NIH grant CA210170 (M.G.); Sahlgrenska Academy (ALF) at University of Gothenburg grant 716321; Knut and Alice Wallenberg Foundation, Wallenberg Center for Molecular and Translational Medicine, University of Gothenburg; Swedish Cancer Society grant 2016-438; Swedish Research Council grant 2017-01392; Swedish Childhood Cancer Foundation grant 2017-0043; the University of North Carolina (UNC) Department of Pathology and Laboratory Medicine; the University Cancer Research Fund; and the UNC Integrated Translational Science Center award NCI 5-U10CA181009-05. Publisher Copyright: {\textcopyright} 2019 American Society for Investigative Pathology and the Association for Molecular Pathology",
year = "2019",
month = jul,
doi = "10.1016/j.jmoldx.2019.03.006",
language = "English",
volume = "21",
pages = "658--676",
journal = "Journal of Molecular Diagnostics",
issn = "1525-1578",
publisher = "Association of Molecular Pathology",
number = "4",
}
