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taehojo
by taehojo

generate_variant_report

Generate comprehensive clinical reports for genomic variants with full analysis, modalities, and clinical interpretation to support diagnostic summaries.

Instructions

Generate comprehensive clinical report for a variant.

Full analysis with all modalities and clinical interpretation.

Perfect for: clinical reports, diagnostic summaries.

Example: "Generate full report for chr13:32912345G>T"

Input Schema

TableJSON Schema
NameRequiredDescriptionDefault
chromosomeYes
positionYes
refYes
altYes
tissue_typeNo

Implementation Reference

  • Tool schema definition with input validation for chromosome, position, ref, alt, and optional tissue_type.
    export const GENERATE_VARIANT_REPORT_TOOL: Tool = {
      name: 'generate_variant_report',
      description: `Generate comprehensive clinical report for a variant.
    
    Full analysis with all modalities and clinical interpretation.
    
    Perfect for: clinical reports, diagnostic summaries.
    
    Example: "Generate full report for chr13:32912345G>T"`,
      inputSchema: {
        type: 'object',
        properties: {
          chromosome: { type: 'string', pattern: '^chr([1-9]|1[0-9]|2[0-2]|X|Y)$' },
          position: { type: 'number', minimum: 1 },
          ref: { type: 'string', pattern: '^[ATGCatgc]+$' },
          alt: { type: 'string', pattern: '^[ATGCatgc]+$' },
          tissue_type: { type: 'string' },
        },
        required: ['chromosome', 'position', 'ref', 'alt'],
      },
    };
  • src/tools.ts:709-730 (registration)
    Registration of all tools including GENERATE_VARIANT_REPORT_TOOL in the ALL_TOOLS array returned by ListTools endpoint.
    export const ALL_TOOLS: Tool[] = [
      PREDICT_VARIANT_TOOL,
      BATCH_SCORE_TOOL,
      ASSESS_PATHOGENICITY_TOOL,
      PREDICT_TISSUE_SPECIFIC_TOOL,
      COMPARE_VARIANTS_TOOL,
      PREDICT_SPLICE_IMPACT_TOOL,
      PREDICT_EXPRESSION_IMPACT_TOOL,
      ANALYZE_GWAS_LOCUS_TOOL,
      COMPARE_ALLELES_TOOL,
      BATCH_TISSUE_COMPARISON_TOOL,
      PREDICT_TF_BINDING_IMPACT_TOOL,
      PREDICT_CHROMATIN_IMPACT_TOOL,
      COMPARE_PROTECTIVE_RISK_TOOL,
      BATCH_PATHOGENICITY_FILTER_TOOL,
      COMPARE_VARIANTS_SAME_GENE_TOOL,
      PREDICT_ALLELE_SPECIFIC_EFFECTS_TOOL,
      ANNOTATE_REGULATORY_CONTEXT_TOOL,
      BATCH_MODALITY_SCREEN_TOOL,
      GENERATE_VARIANT_REPORT_TOOL,
      EXPLAIN_VARIANT_IMPACT_TOOL,
    ];
  • MCP CallToolRequestSchema handler case that validates input and calls AlphaGenomeClient.generateVariantReport.
    case 'generate_variant_report': {
      const params = validateInput(variantPredictionSchema, args) as VariantPredictionParams;
      const result = await getClient().generateVariantReport(params);
      return {
        content: [{ type: 'text', text: JSON.stringify(result, null, 2) }],
      };
    }
  • AlphaGenomeClient method that proxies the tool call to Python bridge with action 'generate_variant_report'.
    async generateVariantReport(params: VariantPredictionParams): Promise<any> {
      try {
        return await this.callPythonBridge('generate_variant_report', params);
      } catch (error) {
        if (error instanceof ApiError) throw error;
        throw new ApiError(`Variant report generation failed: ${error}`, 500);
      }
    }
  • Core implementation: generates variant report using assess_pathogenicity results, formats clinical classification, scores, evidence summary, and recommendations.
    def generate_variant_report(client, params: Dict[str, Any]) -> Dict[str, Any]:
        """Generate clinical report for variant."""
        result = assess_pathogenicity(client, params)
    
        # Build clinical report
        report = {
            'variant': result['variant'],
            'classification': result['classification'].upper(),
            'pathogenicity_score': result['pathogenicity_score'],
            'evidence_summary': {
                'expression_impact': f"{result['evidence']['expression_impact']:.4f}",
                'splicing_impact': f"{result['evidence']['splice_impact']:.4f}",
                'tf_binding_impact': f"{result['evidence']['tf_binding_impact']:.2f}"
            },
            'recommendation': 'Further clinical evaluation recommended' if result['pathogenicity_score'] > 0.5 else 'Routine monitoring',
            'generated_date': 'API call timestamp'
        }
    
        return report

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