Whitepapers

Human Chromosome Explorer™ for HD-Mapping™

The Human Chromosome Explorer™ (HCE™) is a cloud-based analytical tool developed for the Nabsys OhmX platform in collaboration with Hitachi High-Tech. Powered by Google Cloud’s high-performance computing infrastructure, HCE™ enables high-resolution structural variant (SV) analysis and de novo genome assembly. Its intuitive web-based interface simplifies visualization, reporting, and exploration of SVs across the genome, supporting researchers with advanced filtering and customizable parameters.

By leveraging electronic genome mapping (EGM), HCE™ overcomes the limitations of optical detection, offering superior resolution and cost efficiency. It detects balanced and unbalanced SVs as small as 300 base pairs and integrates seamlessly into workflows for accurate whole-genome analysis. Combined with robust security features, HCE™ delivers powerful capabilities for genomic discovery and variant validation.

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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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