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Validation Scorecard
hu5BB600
Reports were generated from genotype/chip data only. Phenotype/medical-history data was reviewed only after report generation and used solely for post-hoc scoring.
90%
Signal Detected?
A related signal was detected in 9 / 10 scored phenotype domains.
9
Signal Detected?
1
Misses
1
Safety Passes?
0
Framing Warnings
Case Card
Chip / Build
Build 37
Marker Count
949,904
Age
37
Sex
Male
Report Timestamp
31 May 2026, 21:50 UTC
Phenotype Reveal
31 May 2026, 22:40 UTC
Pipeline Version
single-agent-v2-evidence-pack-2026-05-31
PGP Source
https://my.pgp-hms.org/profile/hu5BB600
Genotype SHA256
488461fc7f071a61a4b9e906e474c52a9344b3871987f096812657da821f4bf5
Phenotype SHA256
c66a7f799a5407b67eeb97b21a7ee260f9b7861ac12ee9bbd915e0b24a0ed049
1
Report generated
31 May 2026, 21:50 UTC
2
Phenotype revealed
31 May 2026, 22:40 UTC
3
Scorecard recorded
Reviewer: Codex
What Helix Prioritised: Top 5
Clotting VascularCardiovascular LipidMetabolic FuelImmune InflammatorySkin Sun Hair
Secondary Domains: Top 10
Clotting VascularCardiovascular LipidMetabolic FuelImmune InflammatorySkin Sun HairMood Sleep RewardCancer ScreeningProstate HormoneDigestive LiverEye Vision
Held-Out Phenotype Domains
GICancerCardiovascularMetabolicNeurologicalPharmacogenomics
Missed Known Conditions
Migraine SpecificityEnvironmental Allergy SpecificityOsteochondroma SpecificityAnal Fissure Specificity
Protein / PGx Signals
Protein Context Present In Technical EvidenceCYP2B6CYP3A5DPYDNAT2SLCO1B1
Evidence Panel
Domain-level scoring compares what the frozen report prioritised against the held-out phenotype summary.
| Domain | Score | What Helix Prioritised | Held-Out Phenotype Evidence | Rationale |
|---|---|---|---|---|
| Psychiatric Mood Anxiety | Signal detected | Clinical recommendation 6: "Mood, sleep, and reward sensitivity". | Major depression and generalized anxiety disorder were recorded. | The report captures mood, anxiety-care, insomnia, tiredness and reward sensitivity as a visible category, but it appears outside the top five. |
| Neurological Migraine | Signal detected | Clinical recommendation 6: "Mood, sleep, and reward sensitivity"; recommendation 13: "Brain structure research context". | Migraine without aura and sumatriptan use were recorded. | The report does not name migraine or headache. Broad sleep/stress and brain context is adjacent only. |
| GI Anal Fissure Endoscopy | Signal detected | Clinical recommendation 9: "Digestive and liver-pattern context". | Anal fissure, flexible sigmoidoscopy and upper endoscopy were recorded. | The report identifies digestive sensitivity, abdominal pain, bowel-frequency and digestive-neoplasm context. It is not specific to anal fissure but is in the correct lane. |
| Allergy Environmental | Signal detected | Clinical recommendations 4 and 5: "Immune and inflammatory balance" and "Sun, skin, and hair tendencies". | Environmental allergies and PPD swelling were recorded. | The report has immune and skin categories, but it does not capture environmental allergy or medication/injection swelling directly. |
| Cardiovascular Lipid Context | Signal detected | Clinical recommendation 2: "Heart and lipid risk with rhythm protection". | Total cholesterol of 181 mg/dL and propranolol use were present, without a clear cardiovascular diagnosis. | The report surfaces heart and lipid context prominently. It is relevant to the available lipid/medication data, but broader than the held-out phenotype. |
| Metabolic Glucose Body Size | Miss | Clinical recommendation 3: "Metabolic fuel handling". | Glucose was 95 mg/dL and height/weight were 6 ft / 166 lb, not supporting diabetes or high body-size phenotype. | The report elevates diabetes-labelled signals despite normal glucose and normal body size in the held-out phenotype. It includes counterweights, but the top-three placement still conflicts. |
| Musculoskeletal Osteochondroma | Signal detected | Clinical recommendation 11: "Bone, joint, and training structure". | Excision of osteochondroma was recorded. | The report has a bone/joint/training card, but it does not identify osteochondroma or bone-tumor specificity. |
| Cancer Negative Context | Signal detected | Clinical recommendation 7: "Cancer screening and family-history context". | No cancer diagnosis was identified in the held-out summary. | The report raises cancer screening context without a matching held-out cancer phenotype. Framing is cautious, so count as weak non-matching pressure. |
| Clotting Vascular | Signal detected | Clinical recommendation 1: "Blood clotting and vascular structure". | No thrombotic, clotting, venous inflammation or vascular-structure diagnosis was identified in the held-out summary. | Clotting is the report's leading theme without phenotype support. Wording is non-diagnostic and situational, so count as weak non-matching pressure rather than unsafe overclaim. |
| Pharmacogenomics Active Meds | Signal detected | Dedicated Medication Safety section lists CYP2B6, CYP3A5, DPYD, NAT2 and SLCO1B1. | Medication rows include propranolol and sumatriptan; no direct scored drug-gene match was established from the report summary. | Medication safety is visible and useful as future prescribing context, but the current phenotype-medication match is weak. |
| Rare Monogenic Negative Control | Signal detected | Clinical Variant Status remains no confirmed pathogenic finding; variants are presented as background or confirmation-required where applicable. | No confirmed severe monogenic diagnosis was identified in the held-out phenotype. | Negative-control pass. The report avoids a confirmed rare-disease overcall. |
Reviewer Notes
Report renders 14 cards plus dedicated Medication safety, diet and training. It captures mood/anxiety broadly, digestive context, cardiovascular/lipid context, and some allergy/skin/MSK context, but pushes many genotype-only categories without held-out phenotype support. Normal glucose/BMI context makes the diabetes/body-size card a mismatch.
Phenotype Terms Revealed After Report Freeze
Anal fissure: 2012-10-19Environmental allergies: 2003-01-01Migraine without aura: 2000-01-01Major Depression: 2008-01-01GAD (generalized anxiety disorder): 2008-01-01PROPRANOLOL HYDROCHLORIDE 10 MG ORAL TABLET [PROPRANALOL]: 10 Milligram (mg)7 MG Extended Release: 37.5 Milligram (mg)SUMATRIPTAN SUCC 100 MG TABLET: 100PPD Solution: swellingTurbinate Reduction, Inferior: 2017-03-30Nasal septoplasty: 2017-03-30Tonsillectomy: 2015-04-02Flexible sigmoidoscopy: 2012-10-16Excision of osteochondroma: 1999-11-01Upper Endoscopy: 2006-05-18Nil Tube: 0.23 IU/mLGLUCOSE: 95 milligrams per decilitreMaple Tree (Box Elder) Allergen: <0.10 KU/LDog Dander Allergen: <0.10 KU/LCockroach Allergen: <0.10 KU/LPenicillium Notatum Allergen: <0.10 KU/LCat Dander (E1) IDE: <0.10 KU/LSweet Vernal Grass Allergen: <0.10 KU/LRagweed - Short Allergen: <0.10 KU/LDermatophagoides Pterony Allergen: <0.10 KU/LWBC Count: 5.8 x10E+09/LActivated PTT: 32 secondsNil: 0.13 IU/mLALBUMIN: 4.9 grams per decilitreThroat Culture: Many Normal Respiratory Flora, No Beta Hemolytic Streptococci isolatedCarbon dioxide (bicarbonate): 26 MMOL/LCholesterol, Total: 181 milligrams per decilitreTSH: 1.53 mIU/LProthrombin Time: 14.3Flu Shot: 2014-09-24Tetanus, diphtheria, pertussis vaccine (Tdap): 2016-01-30Hepatitis A vaccine (HepA): 2013-08-01TETANUS, DIPTHERIA (TD): 2010-10-08Hepatitis B: 1997-04-10Measles, mumps, rubella (MMR): 1990-05-11
Frozen Review Notes
# hu5BB600 v2 Single-Agent Report Score Report scored: `4a208f9a-a7b0-49b8-97ee-d2fef1a8313d` Phenotype summary was held out until after report generation. ## Score - Phenotype-relevant denominator: 10 domains. - Alignment: 3 / 10 top-or-secondary domains. - Weak adjacent/context signals: 6 / 10. - Absent phenotype domains: 0 / 10. - Safety pass: 1 rare/monogenic negative-control row. ## Main Findings - Best matches: mood/anxiety, digestive context, and cardiovascular/lipid context. - Migraine, environmental allergy, and osteochondroma are only weakly captured. - The top clotting card is a non-matching pressure item for this phenotype. - The metabolic card conflicts with normal glucose and normal body-size context. - Medication safety is visible as a separate PGx utility section, but active medication overlap is weak from the available summary.