ArticleFrontiers in genetics2025
Optical genome mapping with whole genome sequencing identifies complex chromosomal structural variations in acute leukemia.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Comparative Analysis of Targeted RNA-Seq and Optical Genome Mapping for Detecting Gene Rearrangements in Acute Leukemia.Cancers · 2025Article
- Cancer Cytogenetics: Deep Roots, New Branches in the Age of Omics.Cancer genomics & proteomicsReview
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9 authors.
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Abstract
Introduction: Chromosomal structural variations (SVs) play an important role in the formation of human cancers, including leukemias. However, many complex SVs cannot be identified by conventional tools, including karyotyping, fluorescence Methods: Optical genome mapping (OGM) and whole genome sequencing (WGS) were employed to analyze five leukemia samples with SVs detected by karyotyping, MLPA, and RNA sequencing (RNA-seq). OGM was performed using the Saphyr chip on a Bionano Saphyr system. Copy number variation and rare variant assembly analyses were performed with Bionano software v3.7. WGS was analyzed by the Manta program for SVs. Results: The leukemia samples had an average of 477 insertions, 457 deletions, and 32 inversions, which were significantly greater than those of the normal blood samples ( Conclusion: OGM is a fundamental tool that complements G-banding analysis in identifying complex SVs in leukemia samples, and WGS effectively closes the gaps in OGM mapping.
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