Evaluation reveals false positive errors in diagnostics, highlighting the need for quality control 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.
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Moon et al. (2025) studied this question.
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