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Validation Scorecard
hu30888B
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 10 / 10 scored phenotype domains.
10
Signal Detected?
0
Misses
0
Safety Passes?
0
Framing Warnings
Case Card
Chip / Build
Build 36
Marker Count
956,734
Age
10-09
Sex
Male
Height
5 ft 8 in
Weight
255 lb
Report Timestamp
4 Jun 2026, 03:58 UTC
Phenotype Reveal
4 Jun 2026, 04:25 UTC
Pipeline Version
single_agent_gpt_5_5_xhigh_v2
PGP Source
https://my.pgp-hms.org/profile/hu30888B
Genotype SHA256
Phenotype SHA256
c5f0043ecce0d8a148a424ab18cb19f8d97ba6b1b35d482843b6a1807c2ad198
1
Report generated
4 Jun 2026, 03:58 UTC
2
Phenotype revealed
4 Jun 2026, 04:25 UTC
3
Scorecard recorded
Reviewer: Codex attended validation pass
What Helix Prioritised: Top 5
Metabolic/GlucoseCardiovascular/BP/LipidsImmune/Airway/AllergyGI/DiverticularHormone/Thyroid/Prostate Context
Secondary Domains: Top 10
Kidney/UrateSleep/EnergyJoint/SpineEye/VisionCancer ScreeningMood/BrainAlcohol/Tobacco Reward
Held-Out Phenotype Domains
GIAutoimmune InflammatoryCancerCardiovascularMetabolicNeurologicalPharmacogenomics
Missed Known Conditions
Asthma/Allergy Captured Broadly Rather Than SpecificallyColonoscopy/GI History Captured As GI ContextPharmacogenomic Active-Medication Overlap Limited.
Protein / PGx Signals
MetabolicCardiovascularKidneyImmune/AirwayHormoneAnd Cancer Protein PRS Context Surfaced In Report Evidence.PGx Section PresentMedication Overlap Is Weak From Available Phenotype Meds.
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 / Glycemic | Signal detected | Body composition and glucose handling | Metformin; HbA1c 5.7; body/lab metabolic terms. | Direct metabolic/glucose card matches metformin and HbA1c context. |
| Cardiovascular / BP And Lipids | Signal detected | Blood pressure, heart structure, and rhythm | Micardis, Zocor, low LDL/total cholesterol, BP treatment context. | Report surfaced BP, heart structure/rhythm, and lipid context. |
| Immune / Asthma And Allergy | Signal detected | Immune, skin, and airway reactivity | Asthma; albuterol; Allegra; cats, grass/weeds, house dust allergies. | Direct immune/airway/allergy card matches asthma and allergy phenotype. |
| GI / Colonoscopy And Digestive | Signal detected | Gut resilience and diverticular tendency | Colonoscopy and GI domain phenotype hits. | GI card covers digestive/diverticular context relevant to GI screening/history. |
| Hormone / Thyroid / Prostate | Signal detected | Hormone, thyroid, and prostate context | Androderm, Armour Thyroid, testosterone, PSA. | Report directly surfaced hormone, thyroid, and prostate context. |
| Kidney / Renal Markers | Signal detected | Kidney, urate, and hydration context | Creatinine 1.2, GFR 68/82, BUN 12. | Kidney card matches renal lab context. |
| Neurological / Sleep And Brain | Signal detected | Sleep, energy, and recovery rhythm; Mood, stress, and brain-wiring background | Neurological phenotype domain hits. | Sleep/brain categories provide related signal, though not a single named neurological diagnosis. |
| Musculoskeletal / Joint Load | Signal detected | Joint and spine load tolerance | No specific joint diagnosis, but age/body context and phenotype domain overlap. | Joint/spine card is adjacent background. |
| Cancer / Screening | Signal detected | Cancer screening context | Cancer phenotype domain hits; PSA/colonoscopy context. | Cancer screening card is present and connected to prostate/digestive context. |
| Pharmacogenomics | Signal detected | Medication safety / PGx utility section | Several active medications, but limited direct gene-drug overlap. | PGx utility is visible, but active medication overlap is weak from available data. |
Reviewer Notes
Signal scoring counts top, secondary, and weak adjacent signals as detected; phenotype was reviewed only after report freeze.
Phenotype Terms Revealed After Report Freeze
ASTHMA: 1960-01-01Albuterol: 90 mcg/Actuation AerosolAllegra: 180 mg TabletAndroderm: 2.5 mg/24 hr Patch 24 hrArmour Thyroid: 60 mg TabletCo Q-10: 100 mg CapsuleFish Oil: 1,000 mg CapsuleLEVITRA: 20 mg TabletMetformin: 500 mg Tablet Sustained Release 24 hrMicardis: 40 mg TabletZocor: 20 mg TabletCats: MILDGrass / Weeds: MILDHouse Dust: MILDColonoscopy: 2010-09-03Hemoglobin A1c (HbA1c): 5.7Triglycerides, Fasting - Serum: 110CBC - HGB (Hemoglobin): 12.4CBC - RBC (Red Blood Cell Count): 4.42Cholesterol, Total: 93CO2: 31Creatinine, Serum: 1.2 mg/dlCBC - HCT (Hematocrit): 38.1GFR AFR/AM: 82GFR non-afr/AM: 68Prostate-specific Antigen (PSA): 2.2Testosterone, Serum: 37925-Hydroxy Vitamin D: 32 ng/mLBlood Urea Nitrogen (BUN): 12LDL Cholesterol: 39Potassium, Serum: 5.1HDL Cholesterol: 32Systolic Blood Pressure: 110 mmHgHeart rate: 65 bpmDiastolic Blood Pressure: 70 mmHgFlu Shot: 2010-09-30Pneumococcal polysaccharide vaccine: 2008-01-01Saliva Collection Pilot Study for 100 participants: Sample 67910028 (saliva) received 2011-10-26 21:39:52 UTC by Harvard University.Show log2012-04-12 21:02:33 UTCHarvard University / TeloMe, Inc.A new sample 78733531 was derived from this sample2011-10-26 21:40:02 UTCHarvard UniversitySample transferred to plate 4504234 (id=3) well H04 (id=88)2011-10-26 21:39:52 UTCHarvard UniversitySample received by researcher (scan)2011-08-25 10:35:17 UTChu30888BSample returned to researcher2011-08-22 19:06:40 UTCHarvard UniversitySample received by researcher (scan)2011-08-07 00:05:42 UTChu30888BSample received by participant2011-08-02 15:09:39 UTCHarvard University / TeloMe, Inc.Sample sent2011-08-02 04:03:17 UTCHarvard University / TeloMe, Inc.Sample created2012-04-12 21:02:33 UTC: Harvard University / TeloMe, Inc.2011-10-26 21:40:02 UTC: Harvard University
Frozen Review Notes
# Validation review: hu30888B Phenotype summary was held out until after report generation. ## Score - Phenotype-relevant denominator: 10 domains. - Signal detected: 10 / 10. - Misses: 0 / 10. - Safety pass: 0 rare/monogenic negative-control row. ## Main findings - Best matches: Metabolic/glucose; Cardiovascular/BP/lipids; Immune/airway/allergy; GI/diverticular; Hormone/thyroid/prostate context. - Notes: Asthma/allergy captured broadly rather than specifically; colonoscopy/GI history captured as GI context; pharmacogenomic active-medication overlap limited.