Precision Long-Read Sequencing for Repeat Expansion Research
Standard exome and genome sequencing often falls short when investigating repeat expansion disorders — regions where short reads cannot resolve complex architecture and where epigenetic context matters as much as sequence.
3X-TGT combines targeted nanopore long-read sequencing with fragment enrichment, removing off-target DNA before sequencing to deliver deep, cost-effective coverage of the loci that matter most. The result: sequence-level resolution of repeat structure alongside native epigenetic information, all from a single assay on unamplified DNA.
Research Applications
Repeat Architecture and Allele Resolution Resolve what short-read methods cannot: exact repeat length distributions, interruption patterns, motif purity, allele phasing and flanking haplotypes — even at loci historically refractory to WGS.
Somatic Mosaicism and Instability Dynamics Quantify within-sample repeat-length heterogeneity across tissues and timepoints to investigate expansion mechanisms and their relationship to clinical variability.
Native Epigenetic Profiling Measure methylation directly on unamplified DNA, capturing allele-specific patterns linked to repeat length, interruptions or haplotype background — without bisulfite conversion artifacts.
Genotype-Phenotype Integration Connect molecular signatures (repeat structure plus epigenetic state) to clinical features — such as age of onset, severity and progression rate — for mechanistic insight and patient stratification.
Cross-Disorder Comparative Studies Apply a consistent assay framework across multiple repeat expansion disorders to distinguish shared biology from disorder-specific signatures.
Therapeutic Development Support target validation, biomarker discovery and responder stratification in programs where repeat complexity and epigenetic regulation are central to disease biology.
We work with universities, academic medical centers and clinician-scientists who are looking to further the understanding of:
- Novel genotype-phenotype correlations
- Cross-disease insights across multiple REDs
- Repeat-length stratification and disease progression studies
- Natural history and trial-readiness research
- Translational studies supporting therapeutic development
By combining precision DNA enrichment, high-fidelity targeted sequencing and an AI-enabled analysis platform, 3X enables researchers to ask — and answer — questions that conventional exome and genome sequencing often cannot.
Built For Collaboration
3X operates as a research partner, not just a testing provider. We work alongside academic and clinical teams across the full arc of translational research:
- Study design and hypothesis development
- Grant application support
- IRB-approved research and clinical studies
- CLIA-validated testing for clinical or regulatory pathways
- Sponsored testing programs to accelerate patient access and enrollment