Hi-C Sequencing Outperforms High-Coverage WGSfor Detection of Diagnostic Fusions and Rearrangementsin FFPE Lymphoma Specimens
Reference:
Sikkink, et al.
AMP Europe 2026 - Tallinn, Estonia
Abstract:
Detection of structural variants (SVs), particularly oncogenic gene fusions and rearrangements, is central to the diagnosis and classification of many lymphomas. Fluorescence in situ hybridization (FISH) remains the current standard of care for detecting these alterations but is limited by probe design, resolution, and the number of loci that can be interrogated simultaneously. While NGS approaches have been explored as alternatives, they have not demonstrated sufficient sensitivity for rearrangements, particularly those involving immunoglobulin (Ig) loci. Hi-C sequencing, which captures genome-wide detection of SVs with high sensitivity and resolution in formalin-fixed paraffin-embedded (FFPE) specimens. Here, we benchmark Hi-C sequencing against high-coverage WGS for detection of clinically relevant lymphoma rearrangements.