Precision Medicine Through Genomic Insights
Translating complex genomic data into clinically relevant insights with precision, speed, and adherence to global standards.
Our Clinical Genomics Capabilities
In the era of personalized medicine, accurate and timely interpretation of genomic data is paramount. GeneSpectrum provides comprehensive analysis services for both germline and somatic variants, delivering actionable reports that support clinical decision-making.
Variant Detection & Reporting
Our validated pipelines are optimized for sensitive and specific detection of all variant types from NGS data.
- Pipeline development for Germline and Somatic variant detection
- Robust variant filtration and quality control
- Comprehensive and customizable reporting services
Annotation & Interpretation
We add critical biological and clinical context to your variants, transforming a simple list into a powerful diagnostic tool.
- In-depth annotation using public and proprietary databases
- Expert variant interpretation based on the latest ACMG/AMP guidelines
- Assessment of clinical and functional consequences
Pharmacogenomics (PGx)
Unlock insights into how an individual's genetic makeup affects their response to drugs. Our PGx reports help guide therapeutic choices for improved efficacy and safety.
- Analysis of key pharmacogenes
- Actionable reporting on drug-gene interactions
- CPIC guideline-based interpretation
Our Clinical Analysis Process
Data Quality Control
Comprehensive QC metrics to ensure data integrity before analysis.
Variant Calling
Advanced algorithms for accurate detection of SNVs, indels, and CNVs.
Annotation & Prioritization
Contextualizing variants with clinical and functional databases.
Expert Review & Reporting
Final review by our clinical team and generation of actionable reports.
Get a Custom Quote for Your Clinical Project
Our team is ready to help you design the best analysis strategy for your clinical genomics needs.
Frequently Asked Questions
Find answers to common questions about our clinical genomics services and processes.