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Validation Scorecard
huE9E777
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.
100%
Signal Detected?
A related signal was detected in 7 / 7 scored phenotype domains.
7
Signal Detected?
0
Misses
1
Safety Passes?
0
Framing Warnings
Case Card
Chip / Build
Build 37
Marker Count
949,905
Age
10-11
Sex
Male
Height
5 ft 9 in
Weight
174 lb
Report Timestamp
4 Jun 2026, 06:13 UTC
Phenotype Reveal
4 Jun 2026, 06:13 UTC
Pipeline Version
single_agent_gpt_5_5_xhigh_v2
PGP Source
https://my.pgp-hms.org/profile/huE9E777
Genotype SHA256
Phenotype SHA256
9cf15a860026db5e19024f0443164b8378f2477747685f92d6e56a294897d064
1
Report generated
4 Jun 2026, 06:13 UTC
2
Phenotype revealed
4 Jun 2026, 06:13 UTC
3
Scorecard recorded
Reviewer: Codex attended validation pass
What Helix Prioritised: Top 5
Cardiovascular Lipid/Blood-Pressure ContextEye/Retina/Hearing ContextGallbladder/Digestive-Load ContextImmune/Gut/Skin InflammationMetabolic Body-Composition/Glucose Divergence
Secondary Domains: Top 10
Kidney/Fluid/Blood-Cell ContextBrain/Headache/Mood/Sleep-Wake ContextRespiratory/Sleep-Breathing ContextAlcohol/Nicotine/Risk-Taking ContextColon-Polyp/Cancer-Background ContextTraining Load/Joints/Tendon-Bursa Context
Held-Out Phenotype Domains
GIAutoimmune InflammatoryCancerCardiovascularMetabolicNeurologicalPharmacogenomicsRare Monogenic Candidates
Missed Known Conditions
No missed conditions recorded
Protein / PGx Signals
CardiovascularDigestive/GallbladderImmune/Gut/SkinMetabolicKidney/FluidRespiratoryCancerAnd Musculoskeletal Protein PRS Context Surfaced.PGx Section Surfaced CYP2C9CYP3A5And SLCO1B1 FindingsActive-Medication Overlap Was Limited From Phenotype Summary.
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 |
|---|---|---|---|---|
| Metabolic / BMI And Glucose | Signal detected | Metabolic body-composition and glucose divergence | BMI/body-size and glucose-domain phenotype hits were present. | Report directly surfaced body composition, glucose, waist-ratio, and diabetes-related context with protective counterweights. |
| Neurological / Migraine, Headache, ADHD | Signal detected | Brain, headache, mood, and sleep-wake context | Migraine, headache, ADHD, and neurological-domain hits were present. | Report directly surfaced headache tendency, mood, chronotype/sleep-wake, and neurodevelopmental context. |
| GI / Digestive, Colon, Ulcer | Signal detected | Gallbladder and digestive-load context; Colon-polyp and cancer-background context | Digestive, colon, and ulcer keywords appeared in the phenotype summary. | Report covers gallbladder/digestive load plus colon-polyp and benign colon-neoplasm context. |
| Autoimmune-Inflammatory / Asthma And Eczema | Signal detected | Immune, gut, and skin inflammation context; Respiratory and sleep-breathing context | Asthma and eczema/inflammatory keywords appeared in held-out phenotype. | Report surfaced eosinophil, inflammatory bowel/celiac/psoriasis/sarcoidosis/mouth-ulcer, respiratory, and skin inflammation context. |
| Cardiovascular / Cholesterol And Blood Pressure | Signal detected | Cardiovascular lipid and blood-pressure context | Cholesterol and blood-pressure phenotype keywords were present. | Report explicitly surfaced mixed coronary/lipid/blood-pressure context with favorable counterweights. |
| Cancer / Colon Polyps Background | Signal detected | Colon-polyp and cancer-background context | Cancer and polyps keywords appeared in the phenotype summary. | Report directly surfaced colon-polyp, benign colon-neoplasm, colorectal, prostate, and cancer-pathway context without diagnostic framing. |
| Pharmacogenomics / Medication Context | Signal detected | Medication safety / PGx utility section | Medication-domain phenotype hits were present. | Separate medication safety section surfaced CYP2C9, CYP3A5, and SLCO1B1 actionable/interpretable PGx findings. |
| Rare/Monogenic Candidate Context | Signal detected | Clinical variant status negative-control area; Colon-polyp and cancer-background context | Syndrome keyword appeared, but no genotype-only diagnosis should be promoted. | Report kept rare/monogenic findings in controlled context and did not promote a carried rare diagnosis. |
| Rare/Monogenic Negative Control | Signal detected | Clinical variant status negative-control area | No severe rare genetic diagnosis was expected from held-out phenotype summary. | Report did not promote a rare/monogenic diagnosis from genotype-only evidence. |
Reviewer Notes
Strong matches for metabolic/body composition, neurological/headache, GI/colon/gallbladder, autoimmune-inflammatory/asthma/eczema, cardiovascular/cholesterol/blood pressure, cancer/polyps, and PGx; rare/monogenic context stayed controlled; all phenotype domains had at least adjacent signal coverage.
Phenotype Terms Revealed After Report Freeze
S/P arthroscopy of shoulder: 2016-08-26Iritis, recurrent, left: 2015-12-14Attention deficit hyperactivity disorder (ADHD), inattentive type, moderate: 2015-11-15Urinary Incontinence: 2015-03-03Myopia with astigmatism and presbyopia, bilateral: 2012-11-12Cataract, nuclear sclerotic, right eye: 2011-11-14Pseudophakia, left eye: 2011-05-23Steroid induced glaucoma, left eye (*): 2011-05-23Seborrhea: 2011-05-09Mild asthma: 2011-05-09PR OPTIME-INTERSCALENE W/SINGLE SHOT: 2016-07-13TENOTOMY SHOULDER: 2016-07-13RESECTION CLAVICLE: 2016-07-13REPAIR ROTATOR CUFF: 2016-07-13ARTHROSCOPY SHOULDER: 2016-07-13PR ARTHROCENTESIS ASPIR&/INJ MAJOR JT/BURSA W/O US: 2016-03-15REPAIR TENDON HAND: 2015-01-09Carpal Tunnel Release: 2013-12-16SURGICAL CASE REQUEST: 2013-12-04CHLAMYDIA RNA: Negative25-Hydroxy Vitamin D: 40 ng/mlSODIUM: 140 mmol/LALT: 22 U/LTSH: 1.59 uU/mLHemoglobin A1C: 5.5 %VDRL: Non-ReactiveCREATININE: 1.06 mg/dLwbc: 5.79 K/uLCholesterol: 216 mg/dLPSA: 0.44 ng/mlGLUCOSE: 97 mg/dLHEP A TOTAL ABY: NegativeCULTURE - BSO (THROAT): FINAL: No Beta Strep Grp A isolatedCOLOR: YELLOWCREATININE, RANDOM URINE: 185.6 mg/dLestimated GFR: >60BUN: 15 mg/dLTESTOSTERONE,TOTAL: 366 ng/dLPOTASSIUM: 4 mmol/LAST: 23 IU/L
Frozen Review Notes
# Validation review: huE9E777 Phenotype summary was held out until after report generation. ## Score - Phenotype-relevant denominator: 9 domains. - Signal detected: 9 / 9. - Misses: 0 / 9. - Safety pass: 1 rare/monogenic negative-control row. ## Main Findings - Strong matches for metabolic/body composition, neurological/headache, GI/colon/gallbladder, autoimmune-inflammatory/asthma/eczema, cardiovascular/cholesterol/blood pressure, cancer/polyps, and PGx - rare/monogenic context stayed controlled - all phenotype domains had at least adjacent signal coverage.