๐Ÿงฌ Advanced Genomics

Bioinformatics
Services

Pioneering Genetic Reports with Artificial Intelligence

Revolutionizing genetic analysis through cutting-edge AI algorithms for HRD, MSI, and TMB biomarker identification in personalized medicine

90%
Accuracy Rate
24h
Turnaround Time
AI-Powered
Analysis

Revolutionizing Genetic Analysis with AI

We deliver cutting-edge genetic reports from DNA sequencing, leveraging artificial intelligence to identify HRD (Homologous Recombination Deficiency) and MSI (Microsatellite Instability) biomarkers, along with other critical biomarkers for personalized medicine.

Core Capabilities

Advanced Bioinformatics Capabilities

Pioneering genetic analysis powered by cutting-edge AI algorithms for precision medicine and personalized healthcare

๐Ÿงฌ

DNA Sequencing Analysis

Complete processing of next-generation sequencing (NGS) data with proprietary AI algorithms for comprehensive genomic insights.

Whole Genome Sequencing (WGS) processing
Whole Exome Sequencing (WES) analysis
Targeted gene panel sequencing
RNA-seq for gene expression analysis
Somatic and germline variant detection

HRD, MSI & TMB Biomarkers

Precise identification of critical biomarkers for targeted therapies and immunotherapy in oncology applications.

HRD Score (Homologous Recombination Deficiency)
MSI/MSS Status (Microsatellite Instability)
TMB (Tumor Mutational Burden) for immunotherapy
BRCA1/BRCA2 and associated gene mutations
Mutational signatures & genomic profiles
Neoantigen load prediction for immune response

AI for Genomic Interpretation

Advanced machine learning models for complex genetic variant interpretation and clinical decision support.

Variant pathogenicity classification
Functional effect prediction
Genome-wide association studies (GWAS)
Treatment response predictive models
Cancer driver gene identification
Affected pathway analysis
๐Ÿ“Š

Personalized Clinical Reports

Comprehensive, detailed reports tailored for clinicians and patients with actionable insights and recommendations.

Clinical variant interpretation
Personalized therapeutic recommendations
Genetic risk assessment
Disease progression monitoring
Pharmacogenomic reports
AI-assisted genetic counseling
๐Ÿ”

Security & Privacy

Maximum protection of sensitive genetic data according to international standards and regulatory requirements.

End-to-end data encryption
GDPR and HIPAA compliance
Secure cloud infrastructure
Complete audit trail
Data anonymization for research
Strict access policies
โšก

Production Pipeline

Scalable systems for high-volume genomic data processing with enterprise-grade reliability and performance.

Automated batch and real-time processing
Auto-scaling cloud infrastructure
LIMS system integration
APIs for external systems
Data quality monitoring
Backup and disaster recovery
Specialized Biomarkers

๐Ÿงฌ Precision Biomarker Analysis

Advanced biomarker analysis for personalized cancer treatment decisions with clinical-grade accuracy

95%+ Accuracy

HRD Score

Assessment of homologous recombination deficiency for PARP inhibitor response prediction in cancer treatment.

Cancer Types
Ovarian Breast Pancreatic Prostate
๐Ÿ’Š Targeted Therapies
Olaparib Rucaparib Niraparib Talazoparib
๐Ÿ”
98%+ Detection

MSI Status

Microsatellite instability detection for immunotherapy response prediction in precision oncology.

Cancer Types
Colorectal Endometrial Gastric Pancreatic
๐Ÿ›ก๏ธ Immunotherapies
Pembrolizumab Nivolumab Ipilimumab
โšก
FDA Compliant

TMB Analysis

Advanced Tumor Mutational Burden quantification for immunotherapy response prediction and checkpoint inhibitor efficacy.

Cancer Types
Melanoma NSCLC SCLC Bladder
๐Ÿ›ก๏ธ Checkpoint Inhibitors
Pembrolizumab Nivolumab Atezolizumab Durvalumab
โš™๏ธ Technical Specs
Threshold: >10 mut/Mb
Method: WES + AI algorithms
Guidelines: FDA/EMA compliant
Genomic Workflow

Our Genomic Analysis Process

We follow a standardized and rigorous process for genomic analysis, from biological sample to final clinical report with clinical-grade precision.

Genomic analysis process workflow

Complete diagram of our genomic analysis process

1
๐Ÿงช

Sample Collection & Preparation

DNA extraction from tissue or blood samples with standardized protocols for optimal quality.

Quality control with Nanodrop and Qubit
DNA integrity assessment
Library preparation for sequencing
2

NGS Sequencing

High-accuracy sequencing using Illumina platforms for deep and uniform coverage.

Whole Exome Sequencing (WES) - 30X+ coverage
Targeted panels for specific genes
Quality metrics and batch control
3
๐Ÿ’ป

Bioinformatics Processing

Automated pipeline with validated algorithms for genetic variant detection and analysis.

Alignment with BWA-MEM2
Variant calling with GATK and Mutect2
Annotation with VEP and SnpEff
Variant filtering and prioritization
4

Biomarker Calculation

Specialized analysis for determining critical biomarkers in personalized medicine.

HRD Score with clinically validated algorithms
MSI status with standardized markers
TMB calculation following FDA guidelines
COSMIC mutational signatures
5

AI Interpretation

Using artificial intelligence for complex interpretation and contextualization of results.

ML-powered pathogenicity classification
Functional effect prediction
Affected pathway analysis
Genotype-phenotype correlation
6
๐Ÿ“Š

Clinical Reporting

Generation of personalized reports with therapeutic recommendations and clinical interpretation.

Reports compliant with international standards
Personalized therapeutic recommendations
Pharmacogenomic analysis
AI-assisted genetic counseling
Technology Stack

๐Ÿ”ง Our Bioinformatics Technology Stack

Cutting-edge technologies and tools powering our genomic analysis platform for precision medicine

Advanced AI Models

State-of-the-art language models for genomic interpretation

Pydantic AI GPT-4 Turbo Claude 3.5 Sonnet Gemini Pro Qwen 2.5
๐Ÿงฌ

Bioinformatics Tools

Industry-standard genomic analysis software

GATK BWA-MEM2 Samtools VEP SnpEff Mutect2
โ˜๏ธ

Cloud Technologies

Scalable genomic computing platforms

Google Cloud Life Sciences AWS HealthOmics Azure Genomics Terra.bio DNAnexus
๐Ÿง 

Machine Learning

Advanced ML frameworks for genomic analysis

TensorFlow PyTorch Scikit-learn XGBoost DeepVariant
Clinical Applications

๐Ÿฅ Clinical Applications

Transforming genomic insights into actionable clinical decisions across multiple medical specialties

๐ŸŽ—๏ธ

Precision Oncology

Guiding targeted therapies based on comprehensive tumor genetic profiling for personalized cancer treatment.

Personalized therapy selection
Treatment resistance monitoring
Prognosis prediction
Driver mutation identification
๐Ÿ‘จโ€๐Ÿ‘ฉโ€๐Ÿ‘งโ€๐Ÿ‘ฆ

Family Genetics

Hereditary genetic risk analysis and comprehensive family counseling for inherited conditions.

Pathogenic mutation screening
Family segregation analysis
Recurrence risk calculation
Reproductive planning
๐Ÿ’Š

Pharmacogenomics

Genetics-based drug dosing optimization and selection for personalized medication therapy.

Drug response prediction
Adverse reaction identification
Personalized dose adjustment
Personalized therapeutic guidelines
๐Ÿง 

Neurogenomics

Advanced analysis of neurological and neurodevelopmental disorders through genomic insights.

Rare disease diagnosis
Variant of uncertain significance analysis
Genomic association studies
Phenotype prediction
Quality Metrics

๐Ÿ“Š Quality Metrics

Industry-leading performance standards ensuring reliable and accurate genomic analysis results

99.9%

Sequencing Accuracy

Precision in genetic variant detection and analysis

๐Ÿงฌ
95%

HRD Prediction

Accuracy in HRD scoring for targeted therapies

๐Ÿ”
98%

MSI Detection

Sensitivity in MSI-H identification

โšก
24h

Processing Time

From sequencing to clinical report

ISO 15189
Medical Laboratory Certification
CLIA
Clinical Laboratory Improvement
CAP
College of American Pathologists
Get Started Today

Transform Genetic Data into Clinical Decisions

Discover the power of AI-assisted genomic analysis for precision personalized medicine. Start your journey towards better patient outcomes today.

1000+
Samples Analyzed
24/7
Support Available
GDPR
Compliant
ISO
Certified