Genomic Analysis

AI-powered genomic interpretation and precision medicine insights

Genomic Analysis Technology

Precision Genomic Medicine

SynThera's Genomic Analysis platform harnesses advanced AI algorithms to interpret genetic data, identify clinically relevant variants, and provide actionable insights for precision medicine. Our comprehensive analysis covers whole exome sequencing (WES), whole genome sequencing (WGS), and targeted gene panels across oncology, rare diseases, and pharmacogenomics.

Analysis Capabilities

Variant Annotation

Comprehensive annotation using 50+ databases including ClinVar, COSMIC, and gnomAD

Pathogenicity Prediction

AI-powered classification using ensemble machine learning models

Drug Response

Pharmacogenomic analysis for personalized medication selection

Disease Risk

Polygenic risk scores for complex diseases and trait prediction

Technical Specifications

Processing Speed

<2 hours for WES

<6 hours for WGS

Variant Detection

99.5% sensitivity for SNVs

96.2% for structural variants

Data Sources

50+ curated databases

Real-time updates

Standards

ACMG/AMP guidelines

HL7 FHIR genomics

Clinical Applications

🧬

Oncology

Tumor profiling, therapeutic target identification, and treatment selection

🔬

Rare Diseases

Diagnostic odyssey resolution with comprehensive variant analysis

💊

Pharmacogenomics

Personalized drug dosing and adverse reaction prediction

Genomic Analysis API

// Genomic Analysis API
const genomicsClient = new SynTheraGenomics({
  apiKey: 'your-api-key',
  endpoint: 'https://api.synthera.health/genomics'
});

// Analyze VCF file
const analysis = await genomicsClient.analyzeVariants({
  vcfFile: 'patient-variants.vcf',
  analysisType: 'comprehensive',
  specialty: 'oncology',
  includePharmacogenomics: true
});

console.log('Pathogenic variants:', analysis.pathogenic);
console.log('Drug recommendations:', analysis.pharmacogenomics);
console.log('Risk scores:', analysis.polygenic);

Clinical Validation

Variant Classification Accuracy98.7%
Diagnostic Yield42%
Time to Diagnosis-65%

Certification & Compliance

  • CAP/CLIA laboratory certification
  • ACMG/AMP variant classification guidelines
  • ISO 15189 medical laboratory standard
  • HIPAA compliant data handling
  • FDA pre-submission guidance

Unlock the Power of Precision Medicine

Transform genomic data into actionable clinical insights