Horizon for Rare Disease
Singularity accelerates comprehensive SNV, Indel, and SV analysis, resolving the world's hardest cases through LLM-powered phenotype matching.
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Trusted by clinical & research partners worldwide
Horizon is your comprehensive variant interpretation platform. Transition from germline and somatic variants to actionable clinical insights: faster, and with precision
Modular by design. Horizon scales from population-level rare disease genomes to comprehensive precision tumor genomes.
Singularity accelerates comprehensive SNV, Indel, and SV analysis, resolving the world's hardest cases through LLM-powered phenotype matching.
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Including pan-cancer germline and somatic interpretation, Spectra module provides comprehensive tumor profiling to bring cancer therapeutic insights.
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Horizon Intelligence: Multi-agent AI, built for maximum impact to streamline diagnostics.
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Integrate transcriptomes, proteomes, and clinical phenotype data into one interpretation layer.
Explore moduleThree principles guide every layer of the platform and every capability we ship maps back to one of them.
Clinical genomic guidelines and multi-omics data come together in one interpretation layer built for both rare disease and pan-cancer genomics.
Optimized to run in minutes, not hours with the flexibility to scale from a single case to population-scale sequencing projects.
Proven across real-world clinical cohorts from rare disease diagnosis to tumor profiling with therapeutic relevance.
VCF, Pheno-intelligence Agent
QC filtering, variant annotation
ACMG/AMP classifications, ML implementation
Customizable report with evidence trail
"As a scientist specializing in genomic variant interpretation, I find most platforms have steep learning curves and fragmented toolsets that require piecing together various algorithms and databases to identify disease-relevant variants. Horizon has completely transformed my workflow - its comprehensive suite of analysis tools integrated with expert-curated clinical variant databases enables me to go seamlessly to identify biologically significant and clinically actionable findings. Horizon's rapid, clinical capabilities make it my go-to platform for accelerating variant discovery and precision medicine insights."
"Horizon is a powerful whole genome analytics platform which offers rapid analysis of both chromosomal microarray and whole genome sequencing data. It can identify and classify disease relevant variants within a short time as well as it provides the significant findings in a structured report. It is user friendly interface for which no bioinformatics expertise is required. As a user of Horizon, I wish for its immense success in recent precision medicine era."
"Horizon is one of the most reliable and user-friendly tools I’ve used, providing comprehensive annotation and ACMG codes for SNVs and structural variants. Its speed and efficiency, processing a whole genome in just 20–25 minutes, makes it my go-to tool for variant annotation and interpretation."
"Using Horizon has significantly streamlined my experience with clinical variant interpretation, supporting both small and structural variants. I particularly find its gene panel–based variant interpretation and comprehensive ACMG annotation very useful for assessing clinically relevant variants. The inclusion of pharmacogenetic information is an added advantage, providing valuable insights for personalized treatment and making Horizon a tool I rely on regularly."
The answers scientific, laboratory and IT stakeholders ask us most before deploying Horizon.
Talk to our teamHorizon interprets the full range of variants from sequencing data, single nucleotide variants (SNVs), insertions and deletions (indels), copy number variants (CNVs), and structural variants (SVs).
Yes. Horizon applies established standards ACMG for germline classification and AMP for somatic variants so interpretation is consistent and guideline-based.
Yes. Horizon supports both short-read and long-read WGS data (i.e. Oxford Nanopore and PacBio HiFi). The platform supports long-read based SV interpretation as well.
Yes, Horizon integrates additional multi-omics data types together with genomic variants for a fuller picture. It can show gene expression from tissue specific single cell and proteomics dataset.
Horizon is built to enable clinical-grade standards to support diagnostic workflows. The platform has been validated through numerous clinical research cohorts to quantify diagnostic yield and to bring therapeutic insights.
Yes. Horizon connects to common LIMS and EHR systems through APIs, so it fits into your existing workflow rather than replacing it.
Data is enterprise scale encrypted in transit and at rest, with role-based access controls. Horizon can be deployed in the cloud or fully on-premise/in-region to meet your data-residency and privacy needs. Horizon is HIPAA compliant.
Horizon turns raw whole genome variants (from VCF) into a reviewed, report-ready list in 15 minutes, so your team spends less time on manual triage and deep dive projects at scale.
Schedule a live walkthrough with our clinical scientists. See your own data interpreted in under an hour.