Genome Interpretation Report
✓ 已验证Bilingual · 10-step pipeline · All verified and delivered
VCF QC -> ANNOVAR 122-column annotation -> FM tri-model pathogenicity prediction -> ClinVar+dbNSFP ACMG classification -> PharmGKB pharmacogenomics -> PRS polygenic risk -> mitochondrial variants -> NCCN cancer risk assessment -> ACMG carrier screening -> bilingual report. All 10 steps verified and delivered. This page serves three audiences: patients and public wanting to understand genome reports, hospitals and pharma seeking interpretation partners, and investors and peers evaluating technical capabilities.
Read "What is a Genome Report" and "To Patients" below--you have the right to understand your own genome.
Focus on "DiVo's Role", "6-Step Pipeline", "Benchmarks"--all 10 steps verified and delivered, with sample reports.
Focus on "Differentiation", "Benchmarks", "Glossary"--evaluate the technical barrier of FM tri-model cross-validation.
To Patients and Families
DiVo Gen²AI's genome interpretation service is a business that works in coordination with medical institutions, not a service directly for individual users and patients. The genome interpretation report is for reference only and does not replace medical advice. If you have health concerns, please consult your treating physician or a genetic counselor.
The genome interpretation report provides patient genomic risk stratification for the following flagship services
What is a Genome Interpretation Report
Everyone's genome contains billions of base pairs with millions of variants--most are harmless, a few may cause disease. A genome interpretation report starts from raw sequencing data (VCF file), filtering, annotating, and classifying layer by layer, ultimately telling you which gene loci have clinically significant findings.
A complete interpretation report doesn't just list "which position changed"--it answers "what this variant means"--pathogenic or benign? Which drug metabolism does it affect? What's the polygenic risk score? Which genetic disease mutations are carried? DiVo's report uses three versions for different readers: a plain-language Chinese version for ordinary people, an English professional version for doctors, and a technical appendix for bioinformatics peers.
DiVo uses three genomic foundation models for cross-voting to determine pathogenicity--AlphaGenome (DeepMind), Genos (BGI), Evo2 (Arc Institute)--2/3 consensus determines the result, not a single model run.
A single foundation model may misjudge due to training data bias. Three models with different principles cross-vote, 2/3 consensus required--covering different populations and modeling methods, higher reliability.
If a genome report only has an English professional version, ordinary people can't understand it. The plain-language Chinese version directly tells you what results mean and what to do--you have the right to know your genome.
DiVo Gen²AI's Role
The genome interpretation report is the core output of DiVo's four-in-one service L1 Source Code dimension, and the input for patient genomic risk stratification in the neoantigen pipeline and CAR-T pipeline. We provide end-to-end computing from VCF to three-format reports--QC, annotation, FM tri-model prediction, ACMG classification, pharmacogenomics, PRS, mitochondrial, cancer risk, carrier screening, report generation, all 10 steps verified and delivered.
We do not do clinical diagnosis (report is for reference only), do not do wet-lab validation of variants, do not do family genetic counseling. We deliver genome interpretation reports that can be directly referenced by physicians.
Core Capability · 6-Step Pipeline
From VCF to bilingual report · All verified and delivered
Differentiation
Core differences from single-model/single-format genome reports
Genomic Foundation Model Tri-Model Cross
AlphaGenome + Genos + Evo2 three foundation models vote together, 2/3 consensus determines pathogenicity. Not a single model run, but tri-model cross-validation--covering different modeling principles and population backgrounds.
Plain-Language Chinese Report
Not only an English professional version, but also a plain-language Chinese version for ordinary people--no need to understand algorithms or medical abbreviations, directly tells you what results mean and what to do.
Three Formats · Two Languages
Plain-Language Chinese
✓ 已验证Easy-to-understand health action plan, no algorithm knowledge needed
MD / HTML / PDF
English Professional
✓ 已验证VCF interpretation report for medical professionals
MD / HTML / PDF
Technical Appendix
✓ 已验证Detailed explanation of ACMG/PRS/pharmacogenomics metrics
MD / PDF
ACMG Classification Evidence
ClinVar VCF direct parsing + dbNSFP42a 28-criteria auto-evaluation, evidence-backed
PharmGKB Pharmacogenomics
Directly parsed from PharmGKB relationships.tsv, 111,254 drug-gene associations
Tri-Model GPU Inference Results
AutoDL RTX 4080 · 2026-07-02 · chr22 200 variants
Genomic Foundation Model Tri-Model Cross
AlphaGenome + Genos + Evo2 vote together, 2/3 consensus determines pathogenicity
AlphaGenome
DeepMind PyTorch port · 878MB权重
8192bp context · Regulatory region variant expertise
AutoDL GPU inference verified ✓
Genos-1.2B
BGI · Mixtral MoE · 4.7GB权重
8K bp context · Chinese population optimization
AutoDL GPU inference verified ✓
Evo2-7b_base
Arc Institute · BF16 · 13GB权重
Long-context DNA modeling · SDPA fallback
AutoDL GPU inference verified ✓
Benchmarks
All from actual run outputs, not estimates
| Metric | Value | Note |
|---|---|---|
| Run batches | 15+ | Bilingual MD/HTML/PDF all formats |
| Variant coverage | 6,732 | Single chromosome (chr22) complete report |
| ANNOVAR columns | 122 | dbNSFP42a (48GB) + refGene + ensGene |
| ClinVar match rate | 100% | 6,732/6,732 variants all matched ClinVar records |
| ACMG classification | 1,526 LP | Likely Pathogenic accounts for 22.7% (PP3+PS2 dual evidence) |
| PharmGKB matches | 652 | 9 genes × 43 drugs association entries |
| dbNSFP CADD | 3,387 | Among them 3,064 with CADD≥25 strong pathogenic signal |
| FM models | 3/3 | Genos + AlphaGenome + Evo2-7b all GPU inference verified (AutoDL RTX 4080) |
| Specialized analysis modules | 4/4 | 5b PRSice(BC 249/CAD 140K SNP); 5c mitochondrial 18 pathogenic sites(ClinVar chrM); 5d NCCN 15 genes; 5e ACMG 11 genes(11/11 detected) |
| Report formats | 3 | MD + HTML + PDF |
| Language | 中英双语 | Plain-language + Professional |
| Report version | v3 | In-house report generator ~1200 lines Python |
Sample Reports Available
Genomic health report + technical appendix, PDF bilingual version. All 10 pipeline steps verified and delivered.
Honest Boundaries
What we can and cannot do, clearly stated
What We Can Do
What We Don't Do
Glossary
5 core terms in genome interpretation
| Abbr. | Full Name | Translation | Explanation |
|---|---|---|---|
| VCF | Variant Call Format | Variant Call Format | Standard file format for genomic variants, recording mutation information at each position |
| ACMG | American College of Medical Genetics | American College of Medical Genetics | Authoritative body establishing genetic variant classification standards, 5-tier: pathogenic/likely pathogenic/VUS/likely benign/benign |
| PRS | Polygenic Risk Score | Polygenic Risk Score | Aggregates small effects from multiple gene loci to assess overall genetic risk for a disease |
| FM | Foundation Model | Foundation Model | Large AI model pre-trained on massive data, adaptable to various downstream tasks |
| ClinVar | ClinVar Database | ClinVar Database | Public database maintained by NCBI, recording relationships between genetic variants and diseases |
CAPACITY TRACE
能力回溯
这项服务由哪些能力支撑——从硅片到你的场景
硅片(L1) → 模型(L2) → Agent(L3) → 管线(L4) → 你的场景