GENETICS & GENOMICS
GeneDeep
GeneDeep is an end-to-end genetic and genomic analysis and reporting platform that takes NGS (Next-Generation Sequencing) data from raw reads to clinical interpretation.
From germline to somatic, from pharmacogenomics to structural variants, it brings a broad analysis range under one roof — an end-to-end flow from the bioinformatics pipeline to ACMG-based clinical reporting.
Sequencing
WGS · WES · CES · Targeted panels
Analysis
Germline · Somatic · PGx · CNV
Pipeline
FASTQ → BAM → VCF → clinical report
Standard
ACMG-based classification
WGS
Whole Genome Sequencing analysis.
WES
Whole Exome Sequencing analysis.
CES
Clinical Exome Sequencing — clinically focused.
Targeted Panels
Custom panels by disease/indication.
Which sequencing types does it support?
GeneDeep processes different sequencing strategies — from whole genome to clinical exome and disease-specific panels — on a single platform. Each type runs through the same bioinformatics pipeline for a consistent analysis and reporting experience.
Germline (Hereditary)
Hereditary disease and carrier analysis, ACMG/AMP classification.
Somatic (Oncology)
Tumor variants, TMB (tumor mutational burden), MSI assessment, targeted therapy guidance.
Pharmacogenomics (PGx)
Drug-gene interactions, drug metabolism and dose-response interpretation.
CNV & Structural Variant
Detection of copy number changes and structural variants.
Which analysis areas does it cover?
GeneDeep supports a broad range of variant analysis, from hereditary disease to oncology and pharmacogenomics. Each area is interpreted with its own clinical guidelines and reference databases.
01 · Quality Control
Assessment of raw read quality (QC).
02 · Alignment
Aligning reads to the reference genome.
03 · Variant Calling
Detection of variants.
04 · Annotation
Variant enrichment with reference databases.
05 · Clinical Interpretation
ACMG-based classification and assessment.
06 · Reporting
Generation of structured clinical reports.
How does data flow from raw reads to a report?
GeneDeep's bioinformatics pipeline turns raw sequencing output into a clinical report through standard, traceable steps. The standard data flow runs FASTQ → BAM → VCF → clinical report.
Hereditary
- ClinVar
- dbSNP
- gnomAD
- OMIM
- ClinGen
- Ensembl/RefSeq
- HGMD
- LOVD
Oncology
- COSMIC
- OncoKB
- CIViC
- cBioPortal
- Cancer Gene Census
Pharmacogenomics
- PharmGKB
- CPIC
- DPWG
- FDA PGx
Functional & Prediction
- dbNSFP
- SIFT
- PolyPhen-2
- CADD
- REVEL
- SpliceAI
Which reference databases does it use?
Variant annotation is enriched with well-established reference databases per domain, forming the basis for ACMG-based classification.
How does AI speed up the process?
GeneDeep uses LLM-based augmentation for variant interpretation, literature review and clinical report drafting. This reduces the expert's workload and accelerates the interpretation process.
Human approval is essential — AI produces drafts and suggestions; the clinical decision belongs to the expert.
Report Templates
Configurable clinical report templates and variant justification.
Data Privacy
Architecture focused on KVKK and genetic data privacy.
Audit Trails
Operation logs and traceability.
How are data security and reporting handled?
GeneDeep produces transparent outputs with configurable clinical report templates and variant justification; the architecture is focused on KVKK and genetic data privacy.
GENETICS & GENOMICS
Technology & architecture
GeneDeep combines genomic data processing with AI technologies.
Genomics & Bioinformatics
- NGS (FASTQ→BAM→VCF)
- Variant calling & annotation
- ACMG classification
Reference Databases
- ClinVar
- gnomAD
- COSMIC
- PharmGKB
Artificial Intelligence
- LLM integrations
- RAG pipelines
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