Whitepapers

Confirmation of Structural Variant Calls from Long-Read Sequencing

Are you leveraging the full potential of long-read sequencing (LRS) in your genomic research?

LRS has revolutionized the detection of structural variants (SVs), yet challenges remain, particularly in repetitive or complex DNA regions where false positives and unclear results are more common. This white paper explores how Electronic Genome Mapping (EGM) on the OhmX™ Platform—pioneered by Nabsys—can act as a powerful orthogonal validation tool for SV detection. With the ability to analyze ultra-long DNA samples, EGM delivers unmatched accuracy in detecting SVs ranging from hundreds of base pairs to several hundred kilobases, even within complex or repetitive sequences. Dive into our findings as we assess EGM's performance in verifying PacBio-reported SVs from the well-studied HG002 cell line.

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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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