Families at the heart of rare and inherited disease diagnosis
Horizon Singularity

Built to break the diagnostic odyssey in rare and inherited disease

Multi-ethnic, ACMG-aligned whole-genome interpretation. Validated, long-read compatible, ultra-fast, built for the world's hardest cases.

Request access Read the validation studies

Bringing clarity to rare disease genetics

Purpose-built for clinicians, lab directors, and research teams
resolving the hardest cases.

ACMG-aligned classification

Every variant scored against ACMG/AMP criteria with a full evidence trail.

Validated pathogenicity with increased rare-disease diagnosis yield and long-read compatibility.
VUS ranking built in to add clarity where classification is uncertain.
High higher priority Moderate moderate priority
Structural variants (SV) detected at 0.96 AUC accuracy.

Ultra fast whole genome (long or short read)

Tertiary analysis from FASTQ to a clinically actionable sign-out queue.

5 minutes for exome with diagnosable insights.
10 minutes for long-read compatible variant interpretations.
  • 5 million variants (SNV / indel)
  • 40,000 structural variants (deletion, duplication, insertion, inversion)

Multi-ethnic proprietary rare disease cohorts

Powered by proprietary, curated cohorts, including South Asian and Middle Eastern case-control populations, Horizon Singularity reduces false positives in under-represented populations where most reference databases fall short.

  • Over 3,000 whole genome/exome variant datasets from more than 20 under-represented countries.
  • ACMG-guided pathogenic, likely-pathogenic, and VUS calls.
  • Pharmacogenomic insights for FDA-approved drugs, plus repurposing signals from research.
Allele frequency check
Public reference DB0.00 %
GenomeArc cohort2.14 %
Reclassified - population benign
Classification call
Public DatabaseVUS
GenomeArc HorizonLikely Pathogenic

Phenotype-driven genomic insights

Horizon Singularity converts unstructured phenotypes into standardized medical terminologies (e.g., HPO, disease definitions) and its LLM automatically distills them into gene panels for meaningful variant pathogenicity interpretation.

  • Connects to any EHR system.
  • Phenotype-derived gene panels linked directly to the genome.
  • Links shared phenotypes across rare disease patients.
EHR sync · FHIR
Phenotype Unstructured
"Infant with recurrent febrile seizures, delayed speech, and generalised hypotonia since 6 months."
Ranked gene probability
0.950 0.945 0.940 0.935 0.930 0 5 10 15 20 25
Prediction accuracy Top 4
1 0.951
2 0.948
3 0.946
4 0.945

Everything Horizon reads from a single genome

Nine clinical-grade capabilities running on one whole-genome pass from ultra-fast alignment to ACMG-guided reporting, structural variants, and pharmacogenomics.

Horizon
Singularity
Carrier Screen &Secondary Findings
Validated Precisionin Pathogenicity
Ultra-Fast Long ReadWGS Variant Analysis
Long-Read SVRepeat / Insertion
ACMG GuidedDiagnosis
Trio & DuoAnalysis
Multi-OMICsIntegration
HorizonIntelligence
Pharmacogenomics Insights
Results

Why rare disease teams trust
Singularity

A clinical-grade interpretation layer for scientists, lab directors, and research consortia working on the hardest genomes.

Ultra-Fast Long Read WGS Variant Interpretation
Tertiary analysis on a whole genome ready for sign-out in under ten minutes.
ACMG-Validated Variants
Aligned to ACMG/AMP and continuously verified against ClinVar releases.
Multi-Ethnic Cohort Insights
Population-aware filtering across 37 populations and 240K+ patients.
Phenotype-Aware Analysis
HPO ranking and NLP on free-text notes drive per-patient gene prioritisation.
Therapies & Clinical Trials
Curated gene-drug links and active trials for conditions without approved therapy.
Multi-OMICs Context
Tissue-matched expression deepens calls when DNA evidence alone is ambiguous.
ncRNA Interpretation
Interprets regulatory elements and 34,000+ lncRNAs to maximize diagnostic yield
Supported Technologies

One platform, every sequencing scale

The same validated, ACMG-aligned interpretation runs across whole genome, exome, and targeted panels.

Long Read Whole Genome

End-to-end tertiary analysis in under 10 minutes — SNVs, indels, and structural variants from a single pass, with long- and short-read support.

Long read whole genome analysis
Get Started

Resolve the cases no one else can

Bring Singularity into your rare disease program and shorten every diagnostic journey.

Request access