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Boston Children's Hospital Case Study

Researchers at Boston Children’s Hospital successfully leveraged electronic genome mapping (EGM) to verify a complex structural variant (SV) in the PHEX gene. Led by Dr. Catherine Brownstein, the team utilized the OhmX Analyzer to confirm a 60,150 bp tandem duplication in a case of X-linked hypophosphatemia. EGM’s precise detection, enabled by ultra-high molecular weight DNA tagging and resistance-based electronic sensing, overcame the limitations of traditional sequencing and optical genome mapping.

This study underscores the transformative potential of EGM in rare disease research. Its ability to detect challenging SVs with accuracy and efficiency bridges the gap between short-read sequencing and traditional cytogenetic techniques. By combining SV Discovery and Variant Verification pipelines, EGM paves the way for more comprehensive genomic insights, advancing the understanding of structural variations and their implications for rare genetic conditions. Learn more at nabsys.com/learn/electronic-genome-mapping.

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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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