Your browser doesn't support javascript.
loading
Advancing NGS quality control to enable measurement of actionable mutations in circulating tumor DNA.
Willey, James C; Morrison, Tom B; Austermiller, Bradley; Crawford, Erin L; Craig, Daniel J; Blomquist, Thomas M; Jones, Wendell D; Wali, Aminah; Lococo, Jennifer S; Haseley, Nathan; Richmond, Todd A; Novoradovskaya, Natalia; Kusko, Rebecca; Chen, Guangchun; Li, Quan-Zhen; Johann, Donald J; Deveson, Ira W; Mercer, Timothy R; Wu, Leihong; Xu, Joshua.
Afiliação
  • Willey JC; College of Medicine and Life Sciences, University of Toledo, Toledo, OH 43614, USA.
  • Morrison TB; AccuGenomics Inc., The Atrium, Suite 105, 1410 Commonwealth Drive, Wilmington, NC 28403, USA.
  • Austermiller B; AccuGenomics Inc., The Atrium, Suite 105, 1410 Commonwealth Drive, Wilmington, NC 28403, USA.
  • Crawford EL; College of Medicine and Life Sciences, University of Toledo, Toledo, OH 43614, USA.
  • Craig DJ; College of Medicine and Life Sciences, University of Toledo, Toledo, OH 43614, USA.
  • Blomquist TM; College of Medicine and Life Sciences, University of Toledo, Toledo, OH 43614, USA.
  • Jones WD; Q Solutions, EA Genomics, Morrisville, NC 27560, USA.
  • Wali A; Q Solutions, EA Genomics, Morrisville, NC 27560, USA.
  • Lococo JS; Illumina Inc., 5200 Illumina Way, San Diego, CA 92122, USA.
  • Haseley N; Illumina Inc., 5200 Illumina Way, San Diego, CA 92122, USA.
  • Richmond TA; Roche Sequencing Solutions Inc., Pleasanton, CA 94588, USA.
  • Novoradovskaya N; Agilent Technologies, La Jolla, CA 92037, USA.
  • Kusko R; Immuneering Corporation, Cambridge, MA 02142, USA.
  • Chen G; University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Li QZ; University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.
  • Johann DJ; Winthrop P Rockefeller Cancer Institute, University of Arkansas for Medical Sciences, 4301 W Markham Street, Little Rock, AR 72205, USA.
  • Deveson IW; Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
  • Mercer TR; St. Vincent's Clinical School, University of New South Wales, Sydney, NSW 2010, Australia.
  • Wu L; Garvan Institute of Medical Research, Sydney, NSW 2010, Australia.
  • Xu J; St. Vincent's Clinical School, University of New South Wales, Sydney, NSW 2010, Australia.
Cell Rep Methods ; 1(7): 100106, 2021 11 22.
Article em En | MEDLINE | ID: mdl-35475002
The primary objective of the FDA-led Sequencing and Quality Control Phase 2 (SEQC2) project is to develop standard analysis protocols and quality control metrics for use in DNA testing to enhance scientific research and precision medicine. This study reports a targeted next-generation sequencing (NGS) method that will enable more accurate detection of actionable mutations in circulating tumor DNA (ctDNA) clinical specimens. To accomplish this, a synthetic internal standard spike-in was designed for each actionable mutation target, suitable for use in NGS following hybrid capture enrichment and unique molecular index (UMI) or non-UMI library preparation. When mixed with contrived ctDNA reference samples, internal standards enabled calculation of technical error rate, limit of blank, and limit of detection for each variant at each nucleotide position in each sample. True-positive mutations with variant allele fraction too low for detection by current practice were detected with this method, thereby increasing sensitivity.
Assuntos
Palavras-chave

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Tumoral Circulante Tipo de estudo: Guideline Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA Tumoral Circulante Tipo de estudo: Guideline Limite: Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article