Technical Capability Matrixمصفوفة القدرة التقنية
Hard-question framework to determine whether Tynixa is only a polished interface or a real genomic interpretation engine with traceability, review gates, evidence reasoning, and defensible technical depth.
Critical questionsالأسئلة الحاسمة
- Does Tynixa build traceable interpretation, or only display information?
- Can it convert an external PDF into variant + evidence + report draft?
- Does ACMG explain why each criterion is applied or not applied?
- Does it expose conflicts instead of hiding them?
- Does it state what evidence is missing?
- Does it have Local Variant Memory?
- Does Human Review Gate prevent final output?
- Can it run self-hosted/offline?
- Does every result have source, reason, and confidence?
- Can it produce a review-ready package within minutes?
Assessment axesمحاور التقييم
Input Layer / PDF-VCF-CSV Intake
- VCF/PDF/CSV/Excel/Gene+Variant intake
- PDF report extraction
- multi-variant extraction
- missing report detection
0–5
Variant Normalization
- HGVS c/p/g support
- transcript mapping
- GRCh37/GRCh38 handling
- SNV/Indel/CNV/SV/MT support
- normalization uncertainty
0–5
Gene–Disease Layer
- OMIM/Orphanet/ClinGen context
- gene-disease confidence
- inheritance consistency
- rare disease/oncology/PGx context
0–5
Phenotype Engine
- free-text phenotype understanding
- HPO mapping
- Arabic/English symptoms
- phenotype match scoring
- missing phenotype prompts
0–5
Evidence Engine
- ClinVar/gnomAD/PubMed/OMIM/HPO/ClinGen/LOVD
- source timestamps
- evidence freshness
- quality weighting
- citation traceability
0–5
Evidence Graph
- variant-gene-disease-phenotype-paper-ACMG graph
- conflict detection in graph
- graph score/export/audit
- reuse for local memory
0–5
ACMG Reasoning Engine
- candidate vs applied criteria
- reason/source/confidence per criterion
- over-classification prevention
- ClinGen/gene-specific rules
- draft not final
0–5
Conflict Detection
- ClinVar conflict
- frequency conflict
- phenotype mismatch
- inheritance mismatch
- transcript/build conflict
- escalation severity
0–5
Missing Evidence Engine
- missing segregation/parental/phenotype/functional/QC
- next best action
- doctor questions
- ACMG linkage
- confidence impact
0–5
External PDF Report Interpretation
- classification extraction
- evidence rebuild
- limitations detection
- transcript/build/ACMG omissions
- review package
0–5
Local Variant Memory
- seen before
- reviewer decisions
- institution separation
- versioning
- reclassification alerts
- anonymization
0–5
Human Review Workflow
- reviewer roles
- senior review
- lab director sign-off
- criterion accept/reject
- audit history
- final export lock
0–5
SOP Engine
- lab rules
- PP5 disable
- PS3 senior review
- ClinVar conflict escalation
- thresholds/templates/versioning
0–5
Safety & Guardrails
- no final diagnosis
- no final treatment
- no final ACMG without review
- PHI detector/redaction
- external LLM disabled
- safety events
0–5
Explainability
- source/criterion/evidence/confidence per output
- why VUS/pathogenic not applied
- what would change classification
- doctor/lab/patient modes
0–5
Performance & Scale
- small VCF/WES timing
- variant prioritization
- queue/batch
- offline/cache
- low bandwidth
- no GPU requirement
0–5
Integration
- API
- LIS/LIMS
- HL7/FHIR
- PDF/Word/JSON export
- VCF/CSV/PDF import
- self-hosted/Docker/offline bundle
- audit export
0–5
Report Generation
- draft report
- ACMG table export
- doctor-friendly explanation
- lab-review package
- comparison with original classification
0–5
Safety baseline: draft-only outputs, human review required, no final diagnosis, no treatment decision, no final ACMG classification without review.