Electronic Genome Mapping for High-Throughput Analysis of Repeat Expansion Disorders

Repeat expansion disorders such as Fragile X syndrome (FXS) and Friedreich ataxia (FA) pose challenges for traditional PCR and sequencing methods due to GC-rich and long repeat regions. The Nabsys OhmX™ Platform overcomes these limitations with Electronic Genome Mapping (EGM), enabling high-throughput, amplification-free detection of long DNA molecules.

In this poster, Nabsys demonstrates the accuracy of its RepX pipeline in identifying and sizing FMR1 and FXN repeat expansions across normal, premutation, and full mutation ranges. By leveraging solid-state nanodetectors and multi-hypothesis alignment, EGM provides molecule-level validation with repeat length precision up to hundreds of units. The result is a scalable, high-resolution workflow that supports both whole-genome and gene-specific repeat analysis, driving new discoveries in genetic research and potential clinical applications.

Download the poster to learn how EGM’s RepX pipeline delivers reproducible, customizable solutions for investigating repeat expansion disorders.