Evaluation of false positive and false negative errors in targeted next generation sequencing
T-NGS results from certified providers exhibit substantial variability in both sensitivity and FP error rates. Conventional pipelines not only increase FP errors but also accumulate recurrent FP-prone alleles. These findings underscore the urgent need for standardized pipelines and rigorous quality control measures to ensure the reliability of T-NGS in clinical diagnostics.
Authors
- Eun‐Kyung Kang (ORCID: https://orcid.org/0009-0009-8062-0288)
- Seong Gu Heo (ORCID: https://orcid.org/0000-0001-9594-2655)
- Youngbeen Moon (ORCID: https://orcid.org/0009-0008-9046-076X)
- Chung Hwan Hong
- Jong-Kwang Kim (ORCID: https://orcid.org/0000-0001-9290-0820)
- Hyewon Choi (ORCID: https://orcid.org/0000-0003-3735-6791)
- Kyeong‐Man Hong (ORCID: https://orcid.org/0000-0002-4384-0267)
- Namshik Han (ORCID: https://orcid.org/0000-0002-7741-6384)
- Young-Ho Kim (ORCID: https://orcid.org/0000-0002-6993-0906)
- Tae‐Min Kim (ORCID: https://orcid.org/0000-0002-7993-9701)
- Dong Eun Lee (ORCID: https://orcid.org/0000-0002-2057-5261)
Institutions
- Broad Institute (US)
- Harvard University (US)
- Wellcome/MRC Cambridge Stem Cell Institute (GB)
- University of Cambridge (GB)
- National Cancer Center (US)
- Dana-Farber Cancer Institute (US)
- National Cancer Center (KR)
- Catholic University of Korea (KR)
Publication Details
- Journal
- Genome biology
- Published
- 2025-12-01
- DOI
- https://doi.org/10.1186/s13059-025-03882-2
- Citations
- 2
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 3.63