Tech Notes

Verification of Structural Variants in Tumor Cells using EGM

Structural variants (SVs) are pivotal in cancer progression and drug resistance, yet accurately detecting and validating SVs—especially those larger than 300 base pairs—remains a challenge. Using tumor cells and a multi-platform approach, Talsania et al. (2022) identified 1,788 high-confidence SVs, but fewer than 25% were successfully validated by multiple technologies due to their limitations.

In this tech note, explore how electronic genome mapping (EGM) provides a robust method for independent validation, confirming SVs from cancer genomes even in complex, rearranged regions. Discover our findings as we evaluate EGM's performance in verifying previously reported SVs from matching tumor and normal breast cell lines.

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Download the tech note now to discover how EGM can transform your SV analysis.

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Research Areas & Applications

Cancer Research
Genomic structural variations (SVs) encompass a diverse array of alterations involving large segments of the genome, such as deletions, duplications, inversions, translocations, and insertions.
Rare Disease
Structural variants are essential for diagnosing many genetic disorders and understanding their inheritance patterns.
Cell and Gene Therapy
In many patients, accurate detection and characterization of SVs are crucial for understanding disease etiology, developing targeted therapies, and designing effective gene delivery vectors.
Functional Genomics Research
DNA structural variations can impact gene expression and function. Identifying SVs is essential for deciphering the functional consequences of genetic variation.

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