ORCID Profile
0000-0002-0396-6789
Current Organisation
National Institutes of Health
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Publisher: Springer Science and Business Media LLC
Date: 07-09-2023
Publisher: Springer Science and Business Media LLC
Date: 02-10-2023
Publisher: Springer Science and Business Media LLC
Date: 24-08-2014
DOI: 10.1038/NBT.3001
Publisher: Springer Science and Business Media LLC
Date: 24-08-2014
DOI: 10.1038/NBT.2957
Publisher: Springer Science and Business Media LLC
Date: 16-04-2021
DOI: 10.1186/S13059-021-02315-0
Abstract: Targeted sequencing using oncopanels requires comprehensive assessments of accuracy and detection sensitivity to ensure analytical validity. By employing reference materials characterized by the U.S. Food and Drug Administration-led SEquence Quality Control project phase2 (SEQC2) effort, we perform a cross-platform multi-lab evaluation of eight Pan-Cancer panels to assess best practices for oncopanel sequencing. All panels demonstrate high sensitivity across targeted high-confidence coding regions and variant types for the variants previously verified to have variant allele frequency (VAF) in the 5–20% range. Sensitivity is reduced by utilizing VAF thresholds due to inherent variability in VAF measurements. Enforcing a VAF threshold for reporting has a positive impact on reducing false positive calls. Importantly, the false positive rate is found to be significantly higher outside the high-confidence coding regions, resulting in lower reproducibility. Thus, region restriction and VAF thresholds lead to low relative technical variability in estimating promising biomarkers and tumor mutational burden. This comprehensive study provides actionable guidelines for oncopanel sequencing and clear evidence that supports a simplified approach to assess the analytical performance of oncopanels. It will facilitate the rapid implementation, validation, and quality control of oncopanels in clinical use.
Publisher: Springer Science and Business Media LLC
Date: 15-02-2001
DOI: 10.1038/35057062
Abstract: The human genome holds an extraordinary trove of information about human development, physiology, medicine and evolution. Here we report the results of an international collaboration to produce and make freely available a draft sequence of the human genome. We also present an initial analysis of the data, describing some of the insights that can be gleaned from the sequence.
Publisher: Oxford University Press (OUP)
Date: 12-08-2006
DOI: 10.1093/NAR/GKL507
No related grants have been discovered for Jean Thierry-Mieg.