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Unlocking Your Genomic Potential Through GenomeArc Horizon
Our Most Comprehensive multi-OMICs Clinical Genomic Platform

GenomeArc Horizon is a multi-OMICs platform for genomic diagnosis and discovery. Integrated with artificial intelligence and massive clinical genomic databases from rare diseases and pan cancer, GenomeArc Horizon classify genomic variants to enable diagnosis and therapeutic intervention.

Ultra-Fast ACMG Guided Diagnosis

Ultra-fast: from VCF to pathogenicity classification

  • GenomeArc HorizonTM Implements The American College of Medical Genetics (ACMG) guidelines to classify variants for rare diseases and inherited cancer.
  • Classify Whole Exome Variants in 5 Minutes.
  • Classify over 5 Million Whole Genome Variants in 10 Minutes.
  • Classifies all types of variants (SNV/Indel/SVs) within our intuitive fully automated platform.
  • Compatible with long read structural variants, including repeats, insertion, inversion.

Pharmacogenomics
Insights

  • Comprehensive list of FDA-approved drugs for genetic conditions.
  • Pharmacogenomic insights from thousands of drugs tested in clinical trials and research.
  • Continuously updated proprietary database of gene-drug interactions for precision medicine.
  • Provides drug insights associated with gene variants.
  • Provide drug ID associated with public databases.

Tumor and Liquid Biopsy Profiling

  • Detects and classifies somatic variants (SNVs, Indels, SVs) from tumor-germline pairs using VCF files.
  • Classifies variant pathogenicity from liquid biopsy variants in cell-free DNA for gene panels or whole exome.
  • Predicts cancer types by analyzing genetic variants in cell-free DNA from liquid biopsy.
  • Identifies somatic mutation signatures from tumor or liquid biopsy to assess DNA damage based on nucleotide changes.
  • Our proprietary somatic variant database with millions of variants to aid in detecting driver mutations.

Carrier Screening

  • Trio, duo (couple) or single individual analysis from VCF file to identify carrier status for over 500 globally prevalent recessive diseases.
  • Extended carrier test covers all known (over 4,000) rare genetic diseases.
  • Determines inheritance patterns based on the patient’s carrier status.
  • Delivers comprehensive variant carrier analysis for exome or whole genome within minutes.

Secondary Findings

  • Provide screening analysis of ACMG Secondary Finding Genes that are known to be causal for diseases.
  • Identifies relevant interventions and pharmacogenomic drugs insights for clinically actionable genes based on established guidelines.
  • Compatible to design custom gene panel to extend actionable secondary gene list for exome or whole genome analysis.

Horizon Intelligence

  • Multiple Horizon Intelligence agents are integrated into the platform.
  • Patient disease symptoms (text) can be used to create a gene panel for analysis to identify pathogenic variants affecting these genes.
  • Natural language prompt to search variants(SNV/Indel/SVs) across the genomes make it easy to link patients with similar conditions.
  • Dynamic Learning enhances the platform’s intelligence by integrating uploaded genome and phenotype data, enabling it to connect patients with similar variants and symptoms.
  • Molecular Genomics and pharmacogenomics knowledge provides gene, variant and disease information from a prompt.

Multi-OMICs Integration

Proteomics

  • Gene-level protein expression mapped across all human tissues, integrated with genome variants.
  • Offers insights into pathogenic genes and their tissue-specific protein expression.
  • Supports uploading patient-derived mass spectrometry protein expression data for cancer or rare disease projects.

Single Cell Transcriptomics

  • Single Cell Atlas provides a comprehensive map of single-cell transcriptome cell-type expression across human tissues.
  • Single cell visual UI connects pathogenic gene expression to specific cell types to identify disease cellular etiology
  • Gene level feature plots across different tissues automatically generated.
  • Custom single cell transcriptome data can be uploaded into projects for different cancers or rare diseases.

A Comprehensive
Multi-OMICs Platform
For Genomic Diagnosis
and Discovery

Multi-OMICs Platform

Accuracy

GenomeArc HorizonTM has been utilized across various genetic disease cohorts (cancer and rare diseases), delivering higher diagnostic yields compared to traditional analytical tools. Please read our recent peer reviewed high quality papers to learn more on GenomeArc HorizonTM precision.

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