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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.

DomainScoreWhat Helix PrioritisedHeld-Out Phenotype EvidenceRationale
Metabolic / BMI And GlucoseSignal detectedMetabolic body-composition and glucose divergenceBMI/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, ADHDSignal detectedBrain, headache, mood, and sleep-wake contextMigraine, headache, ADHD, and neurological-domain hits were present.Report directly surfaced headache tendency, mood, chronotype/sleep-wake, and neurodevelopmental context.
GI / Digestive, Colon, UlcerSignal detectedGallbladder and digestive-load context; Colon-polyp and cancer-background contextDigestive, 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 EczemaSignal detectedImmune, gut, and skin inflammation context; Respiratory and sleep-breathing contextAsthma 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 PressureSignal detectedCardiovascular lipid and blood-pressure contextCholesterol and blood-pressure phenotype keywords were present.Report explicitly surfaced mixed coronary/lipid/blood-pressure context with favorable counterweights.
Cancer / Colon Polyps BackgroundSignal detectedColon-polyp and cancer-background contextCancer 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 ContextSignal detectedMedication safety / PGx utility sectionMedication-domain phenotype hits were present.Separate medication safety section surfaced CYP2C9, CYP3A5, and SLCO1B1 actionable/interpretable PGx findings.
Rare/Monogenic Candidate ContextSignal detectedClinical variant status negative-control area; Colon-polyp and cancer-background contextSyndrome 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 ControlSignal detectedClinical variant status negative-control areaNo 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.