Categoría: The Journal of Molecular Diagnostics
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Batch Effects in Tumor-Only NGS Panel Sequencing and Implications for CNV Detection
Next generation sequencing (NGS) is routinely performed in clinical practice to detect various types of mutations for targeted therapy, diagnosis, and prognosis. Actionable alterations detected by NGS include not only non-synonymous mutations that lead…
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Batch Effects in Tumor-Only Next-Generation Sequencing Panel Sequencing and Implications for Copy Number Variant Detection
Next-generation sequencing is routinely performed in clinical practice to detect various types of mutations for targeted therapy, diagnosis, and prognosis. Actionable alterations detected by next-generation sequencing include not only nonsynonymous mut…
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Highly Accurate Detection of Circulating Tumor DNA for Monitoring Minimal Residual Disease in Solid Tumors: Analytical and Clinical Validation of the Haystack MRD Assay
Advances in cell-free DNA (cfDNA) processing and error-suppressed next-generation sequencing (NGS) have enabled detection of circulating tumor DNA (ctDNA) at low abundance for assessment of minimal residual disease (MRD). MRD testing requires high anal…
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Diagnostic Performance of a Multiplex Circulating Tumor DNA Assay for Lung Cancer Detection
Lung cancer remains the leading cause of cancer-related death worldwide, largely due to late-stage diagnosis. Although low-dose computed tomography (LDCT) screening can reduce mortality, it is limited by high false-positive rates, radiation exposure, a…
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Utilization of Next-Generation Sequencing (NGS) in Unexplained Cytopenia: Development and Validation of a Predictive Model to Guide Selective Use of Myeloid NGS
Next-generation sequencing (NGS) has improved diagnostic accuracy for myeloid neoplasms, but its clinical utility in assessing unexplained cytopenias remains uncertain. This study aimed to develop an evidence-based tool to guide the optimal and cost-ef…
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Utilization of Next-Generation Sequencing (NGS) in Unexplained Cytopenia
Next-generation sequencing (NGS) has improved diagnostic accuracy for myeloid neoplasms, but its clinical utility in assessing unexplained cytopenias remains uncertain. This study aimed to develop an evidence-based tool to guide the optimal and cost-ef…
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Highly Accurate Detection of Circulating Tumor DNA for Monitoring Minimal Residual Disease in Solid Tumors
Advances in cell-free DNA processing and error-suppressed next-generation sequencing have enabled detection of circulating tumor DNA (ctDNA) at low abundance for assessment of minimal residual disease (MRD). MRD testing requires high analytical specifi…
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Diagnostic Performance of a Multiplex Circulating Tumor DNA Assay for Lung Cancer Detection
Lung cancer remains the leading cause of cancer-related death worldwide, largely because of late-stage diagnosis. Although low-dose computed tomography screening can reduce mortality, it is limited by high false-positive rates, radiation exposure, and …