ArticleThe Journal of molecular diagnostics : JMD2020
Genomic Analysis of Circulating Tumor Cells at the Single-Cell Level.
Article in The Journal of molecular diagnostics : JMD, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Magnetic-Assisted Manipulation of Rare Blood Cells for Diagnosis: A Systematic Review.Biotechnology and bioengineering · 2025Pooled it
- Single-cell data analysis of lung cancer brain metastasis reveals SEC61G serves as a potential risk indicator.Discover oncology · 2026Article
- DIAG: A Framework for Evaluating Whole-Genome Amplification Quality in Single-Cell SNV Analysis.Biology · 2026Article
- The Role of Circulating Tumor Cell as a Promising Biomarker in the Evaluation of Pulmonary Nodules: A Prospective Study.Cancer research and treatment · 2026Article
- Evaluation of the Effectiveness and Accuracy of Non-Invasive Preimplantation Genetic Testing (niPGT) Compared to Invasive Embryo Biopsy.Biomedicines · 2025Review
- Differential performance of strategies for single-cell whole-genome amplification.Cell reports methods · 2025Article
- Review
- Liquid Biopsy in Lung Cancer: Biomarkers for the Management of Recurrence and Metastasis.International journal of molecular sciences · 2023Review
- Isolation, Detection and Analysis of Circulating Tumour Cells: A Nanotechnological Bioscope.Pharmaceutics · 2023Review
- Enhancing clinical potential of liquid biopsy through a multi-omic approach: A systematic review.Frontiers in genetics · 2023Review
- Single-Circulating Tumor Cell Whole Genome Amplification to Unravel Cancer Heterogeneity and Actionable Biomarkers.International journal of molecular sciences · 2022Review
- New Perspectives for Whole Genome Amplification in Forensic STR Analysis.International journal of molecular sciences · 2022Review
- Recent advances and application of whole genome amplification in molecular diagnosis and medicine.MedComm · 2022Review
- Relevance of Circulating Tumor Cells as Predictive Markers for Cancer Incidence and Relapse.Pharmaceuticals (Basel, Switzerland) · 2022Review
- Single-cell DNA and RNA sequencing of circulating tumor cells.Scientific reports · 2021Article
- Circulating tumor cell detection and single-cell analysis using an integrated workflow based on ChimeraXMolecular oncology · 2021Article
- Comparison of Genetic Profiling between Primary Tumor and Circulating Tumor Cells Captured by Microfluidics in Epithelial Ovarian Cancer: Tumor Heterogeneity or Allele Dropout?Diagnostics (Basel, Switzerland) · 2021Article
- Dive into Single, Seek Out Multiple: Probing Cancer Metastases via Single-Cell Sequencing and Imaging Techniques.Cancers · 2021Review
- Single-Cell Analysis of BRAFMethods in molecular biology (Clifton, N.J.) · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Circulating tumor cells (CTCs) have a great potential for noninvasive diagnosis and real-time monitoring of cancer. A comprehensive evaluation of four whole genome amplification (WGA)/next-generation sequencing workflows for genomic analysis of single CTCs, including PCR-based (GenomePlex and Ampli1), multiple displacement amplification (Repli-g), and hybrid PCR- and multiple displacement amplification-based [multiple annealing and loop-based amplification cycling (MALBAC)] is reported herein. To demonstrate clinical utilities, copy number variations (CNVs) in single CTCs isolated from four patients with squamous non-small-cell lung cancer were profiled. Results indicate that MALBAC and Repli-g WGA have significantly broader genomic coverage compared with GenomePlex and Ampli1. Furthermore, MALBAC coupled with low-pass whole genome sequencing has better coverage breadth, uniformity, and reproducibility and is superior to Repli-g for genome-wide CNV profiling and detecting focal oncogenic amplifications. For mutation analysis, none of the WGA methods were found to achieve sufficient sensitivity and specificity by whole exome sequencing. Finally, profiling of single CTCs from patients with non-small-cell lung cancer revealed potentially clinically relevant CNVs. In conclusion, MALBAC WGA coupled with low-pass whole genome sequencing is a robust workflow for genome-wide CNV profiling at single-cell level and has great potential to be applied in clinical investigations. Nevertheless, data suggest that none of the evaluated single-cell sequencing workflows can reach sufficient sensitivity or specificity for mutation detection required for clinical applications.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.