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Genome Interpretation Report

VCF full-chain interpretation · bilingual triple-format

VCF QC -> annotation -> ACMG classification -> specialized analysis -> report generation, 6-step full chain. AlphaGenome + Genos + Evo2 triple-model cross pathogenicity prediction, bilingual triple-format (plain language + professional + technical appendix).

1-2 weeks50K-150K/genomeCapability Coverage 88%

Pipeline Flow

End-to-end dry-computing loop

1

VCF QC Standardization

bcftools norm + QC check -> standardized VCF + QC JSON

2

Variant Functional Annotation

ANNOVAR (dbNSFP42a) -> 122-column multianno.csv

3

FM Pathogenicity Prediction

AlphaGenome + Genos + Evo2 triple-model cross -> 2/3 consensus determination

4

ACMG Auto-classification

ClinVar VCF + dbNSFP 28 criteria -> 5-tier classification

5

Specialized Analysis (4 modules)

PharmGKB pharmacogenomics + PRSice-2 polygenic risk + mitochondrial pathogenic sites + NCCN/ACMG cancer risk

6

Report Generation (L1/L2/L3)

Proprietary v3 report generator -> bilingual MD/HTML/PDF

Core Tools

bcftoolsANNOVARdbNSFP42aAlphaGenomeGenosEvo2ClinVarPharmGKBPRSice-2v3 Report Generator

Core Advantages

Triple-model Cross Pathogenicity Prediction

AlphaGenome + Genos + Evo2 three genomic foundation models vote, 2/3 consensus required

Plain Language Report

Not just professional English version, but also a plain language version for普通人--directly telling you what results mean

4-module Specialized Analysis

Pharmacogenomics + polygenic risk + mitochondrial + cancer carrier, one-stop coverage

Capability Coverage

88%

Pipeline Synergy

genome-report -> precision-oncology

Genome interpretation -> precision oncology variant annotation

genome-report -> hla-typing

VCF QC -> HLA typing input

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CROSS-LAYER

Underlying Capabilities

Structure prediction / docking / scoring engines

11 dry-computing model repositories

Multi-pipeline orchestration automation

USER SCENE

How This Technology Serves Patients

B2B2C: Through hospitals/doctors, this pipeline reaches these end-user scenarios

Genome Interpretation Report (C-end)

Cross-link: B-end technical page ↔ C-end scenario page

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