GenomeArc Launches Horizon 3.0, the First Assembly-Based Multimodal Genome Tertiary Analysis with Long- and Short-Read Compatibility

Mississauga,Ontario GenomeArc today announced the release of Horizon^TM 3.0, the first assembly-based genome tertiary analysis platform with compatibility for both long-read and short-read sequencing data, for rare disease and cancer.

Rather than relying only on a reference genome, Horizon^TM 3.0 analyzes the assembled genome and reads each parental copy separately. This reveals what short reads and reference-based standard long-read methods can miss: extra gene copies composition, sequence absent from the reference, small (SNV/Indel), structural variants and repeat expansions, with population-specific context. This enables clinicians and researchers to identify pathogenic and disease-relevant variants beyond known references, resolve previously unsolved cases, and decipher complex tumor somatic mutation profiles. The same assembly-based analysis also provides HLA typing, linked to what it may mean for drug response. Long-read data from PacBio HiFi and Oxford Nanopore runs through the same guideline-driven workflow as short-read data, with a classified result in under 15 minutes from a raw variant file.

Horizon^TM 3.0 draws on long-read data from more than 10 underrepresented populations from Africa, Middle East and South Asia, along with more curated proprietary databases for rare disease and cancer, so common local variants are no longer mistaken for rare ones. Horizon brings the patient’s own single-cell transcriptomic and proteomic data into the same portal, alongside reference tissue atlases.

For oncology, Horizon^TM 3.0 now provides comprehensive tumour profiling, including MSI and HRD scoring, alongside AMP/ASCO/CAP-guided variant tiering.

Horizon^TM 3.0 is now available to GenomeArc clients worldwide, through cloud or on prem installation. For more information or to request a demo, please visit https://genomearc.com