ArticleTranslational lung cancer research2020
Integrated analysis of optical mapping and whole-genome sequencing reveals intratumoral genetic heterogeneity in metastatic lung squamous cell carcinoma.
Article in Translational lung cancer research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 16 citations in OpenAlex.
- Hi-C technology for detection of chromosomal rearrangements in families with adverse pregnancy outcomes: a preliminary exploratory study.BMC pregnancy and childbirth · 2026Article
- Optical genome mapping as a diagnostic tool for unsolved balanced translocations in couples with adverse pregnancy outcomes: a case series.European journal of medical research · 2026Article
- Unraveling the hidden complexity of cancer through long-read sequencing.Genome research · 2025Review
- Review
- Integrating Optical Genome Mapping and Whole Genome Sequencing in Somatic Structural Variant Detection.Journal of personalized medicine · 2024Article
- Article
- Identification of complex and cryptic chromosomal rearrangements by optical genome mapping.Molecular cytogenetics · 2023Article
- Optical genome mapping in acute myeloid leukemia: a multicenter evaluation.Blood advances · 2023Article
- Multiplex structural variant detection by whole-genome mapping and nanopore sequencing.Scientific reports · 2022Article
- Multicolor Whole-Genome Mapping in Nanochannels for Genetic Analysis.Analytical chemistry · 2021Article
- Single-molecule optical genome mapping in nanochannels: multidisciplinarity at the nanoscale.Essays in biochemistry · 2021Article
- Genomic evolutionary trajectory of metastatic squamous cell carcinoma of the lung.Translational lung cancer research · 2021Article
- Identification of Somatic Structural Variants in Solid Tumors by Optical Genome Mapping.Journal of personalized medicine · 2021Article
- Cancer Cytogenetics: Deep Roots, New Branches in the Age of Omics.Cancer genomics & proteomicsReview
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12 authors at 3 institutions in 1 country.
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Abstract
backgroundIntratumoral heterogeneity is a crucial factor to the outcome of patients and resistance to therapies, in which structural variants play an indispensable but undiscovered role.
methodsWe performed an integrated analysis of optical mapping and whole-genome sequencing on a primary tumor (PT) and matched metastases including lymph node metastasis (LNM) and tumor thrombus in the pulmonary vein (TPV). Single nucleotide variants, indels and structural variants were analyzed to reveal intratumoral genetic heterogeneity among tumor cells in different sites.
resultsOur results demonstrated there were less nonsynonymous somatic variants shared with PT in LNM than in TPV, while there were more structural variants shared with PT in LNM than in TPV. More private variants and its affected genes associated with tumorigenesis and progression were identified in TPV than in LNM. It should be noticed that optical mapping detected an average of 77.1% (74.5-78.5%) large structural variants (>5,000 bp) not detected by whole-genome sequencing and identified several structural variants private to metastases.
conclusionsOur study does demonstrate structural variants, especially large structural variants play a crucial role in intratumoral genetic heterogeneity and optical mapping could make up for the deficiency of whole-genome sequencing to identify structural variants.
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