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Validation Scorecard

hu5FCE15

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 36
Marker Count
956,728
Age
02-15
Sex
Male
Height
5 ft 11 in
Weight
145 lb
Report Timestamp
4 Jun 2026, 06:53 UTC
Phenotype Reveal
4 Jun 2026, 06:53 UTC
Pipeline Version
single_agent_gpt_5_5_xhigh_v2
PGP Source
https://my.pgp-hms.org/profile/hu5FCE15
Genotype SHA256
Phenotype SHA256
2f22b2757d85c9446257ceea6141698b0cf46dd2a1fc3332688940ba3c14f78e
1

Report generated

4 Jun 2026, 06:53 UTC

2

Phenotype revealed

4 Jun 2026, 06:53 UTC

3

Scorecard recorded

Reviewer: Codex attended validation pass

What Helix Prioritised: Top 5

Glucose/Energy And Pancreatic BalanceBody Composition And Training ResponseCholesterol And Cardiovascular StructureSkin Barrier/Eczema/Sun ResponseAllergy/Airway/Immune Activation

Secondary Domains: Top 10

Gut/Bowel/Colorectal ContextEye And Retinal AwarenessUrinary/Mineral HandlingBrain Ageing/Cognition/HearingMale Hormone/Prostate BiologyBlood-Cell/Nutrient StatusLiver/Bile/Urate Context

Held-Out Phenotype Domains

GICancerMetabolicNeurologicalPharmacogenomicsRare Monogenic Candidates

Missed Known Conditions

No missed conditions recorded

Protein / PGx Signals

MetabolicCardiovascularSkin/ImmuneGutEyeUrinary/MineralBrain/HearingHormone/ProstateBlood-CellAnd Liver/Urate Protein PRS Context Surfaced.Medication Safety Section Surfaced CYP2C9CYP3A5And NAT2 FindingsPhenotype Includes Medication And Adverse-Reaction RowsBut Bupropion-Specific CYP2B6 Overlap Was Not Surfaced.

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, Glucose, Pancreatic ContextSignal detectedGlucose, energy and pancreatic balance; Body composition and training responseBMI/metabolic phenotype hits and glucose-related context were present.Report directly surfaced diabetes, pancreatic, waist/body-composition and training-response context with protective counterweights.
GI / Mouth, Bowel And Colorectal ContextSignal detectedGut, bowel and colorectal contextMucocele/mouth procedure and digestive/bowel phenotype keywords were present.Report surfaced bowel polyp, colon neoplasm, intestinal inflammation, duodenitis and colorectal context.
Skin/Allergy / Hives And Inflammatory ReactivitySignal detectedSkin barrier, eczema and sun response; Allergy, airway and immune activationHives and allergic/adverse-reaction phenotype rows were present.Report directly surfaced skin barrier, eczema, allergic rhinitis, atopic disease, asthma and immune activation context.
Cardiovascular / Patent Foramen Ovale And StructureSignal detectedCholesterol and cardiovascular structurePatent foramen ovale appeared in the held-out phenotype summary.Report surfaced heart-structure and lipid context with favorable vascular/rhythm counterweights; this is adjacent rather than PFO-specific.
Neurological / Migraine With AuraSignal detectedBrain ageing, cognition and hearingMigraine with aura appeared in the held-out phenotype summary.Report surfaced broad brain/neurological context but did not directly prioritize migraine/headache.
Cancer / Screening ContextSignal detectedGut, bowel and colorectal context; Skin barrier, eczema and sun responseCancer-domain phenotype hit was present.Report surfaced colorectal and skin-related cancer-background context without diagnostic framing.
Pharmacogenomics / Medication And Adverse-Reaction ContextSignal detectedMedication safety / PGx utility sectionMedication rows and Wellbutrin-related hives were present.Separate medication safety section surfaced CYP2C9, CYP3A5 and NAT2 findings, but the held-out bupropion row is only indirectly covered.
Rare/Monogenic Negative ControlSignal detectedClinical variant status negative-control areaSyndrome keyword appeared, but no genotype-only diagnosis should be promoted.Report did not promote a rare/monogenic diagnosis from genotype-only evidence.

Reviewer Notes

Signals detected for metabolic, GI, skin/allergy, cardiovascular, cancer/background, PGx, rare-control, and neurological context; migraine is captured only as broad brain/neurological context.

Phenotype Terms Revealed After Report Freeze

Mucocele of mouth: 2013-03-01Patent Foramen Ovale: 1986-01-01Hairline fracture of elbow: 1996-01-01Hives: 2004-01-01Migraine with aura: 1997-01-015 mg oral tablet: 0.5 Milligram (mg)RESVERATROL CAP/TAB: 250 Milligram (mg)John's Wort: 450 Milligram (mg)Clindamycin Phosphate: 1 %Wellbutrin XL: hives (red, raised, itchy bumps)Excision of mucocele: 2013-05-29Tuberculin Skin Test: negativeStrep: PositiveHIV Test: NegativeTetanus: 2010-06-01PGP Blood Collection: Sample 87655221 (whole blood) received 2012-04-26 16:00:00 UTC by Feinstein Institute.Show log2012-04-26 16:00:00 UTCFeinstein InstituteSample received by researcher2012-04-25 21:00:00 UTChu5FCE15Sample returned to researcher2012-04-25 13:00:00 UTChu5FCE15Sample received by participant2012-04-25 02:17:31 UTCHarvard UniversitySample sent2012-04-20 17:37:09 UTCHarvard UniversitySample created2012-04-26 16:00:00 UTC: Harvard University2012-04-25 21:00:00 UTC: hu5FCE152012-04-25 13:00:00 UTC: hu5FCE152012-04-25 02:17:31 UTC: Harvard University2012-04-20 17:37:09 UTC: Harvard University2012-05-02 13:50:51 UTC: Coriell2012-04-25 22:30:00 UTC: Harvard University2012-04-20 17:37:10 UTC: Harvard UniversitySaliva Collection Pilot Study for 100 participants: Sample 41261588 (saliva) received 2011-08-30 21:20:07 UTC by Harvard University.Show log2012-04-12 21:02:32 UTCHarvard University / TeloMe, Inc.A new sample 85799655 was derived from this sample2011-10-26 21:23:24 UTCHarvard UniversitySample transferred to plate 4504234 (id=3) well H01 (id=85)2011-08-30 21:20:07 UTCHarvard UniversitySample received by researcher (scan)2011-08-15 01:49:25 UTChu5FCE15Sample returned to researcher2011-08-05 12:59:39 UTChu5FCE15Sample received by participant2011-08-02 15:09:13 UTCHarvard University / TeloMe, Inc.Sample sent2011-08-02 04:03:09 UTCHarvard University / TeloMe, Inc.Sample created2012-04-12 21:02:32 UTC: Harvard University / TeloMe, Inc.2011-10-26 21:23:24 UTC: Harvard University2011-08-30 21:20:07 UTC: Harvard University2011-08-15 01:49:25 UTC: hu5FCE152011-08-05 12:59:39 UTC: hu5FCE152011-08-02 15:09:13 UTC: Harvard University / TeloMe, Inc.2011-08-02 04:03:09 UTC: Harvard University / TeloMe, Inc.2012-04-12 21:02:12 UTC: Harvard University / TeloMe, Inc.2011-09-13 19:15:34 UTC: Harvard University2011-08-30 21:20:19 UTC: Harvard University2011-08-02 15:09:14 UTC: Harvard University / TeloMe, Inc.2012-04-12 21:01:49 UTC: Harvard University / TeloMe, Inc.2011-09-09 20:13:25 UTC: Harvard University2011-08-30 21:20:56 UTC: Harvard UniversitySaliva Collection for Multiple Studies: Sample 15202772 (saliva) received 2012-01-10 23:51:38 UTC by Harvard University / TeloMe, Inc..Show log2012-04-12 21:05:45 UTCHarvard University / TeloMe, Inc.A new sample 42285480 was derived from this sample2012-01-10 23:51:42 UTCHarvard University / TeloMe, Inc.Sample transferred to plate 25942764 (id=13) well C11 (id=35)2011-12-25 20:01:28 UTChu5FCE15Sample returned to researcher2011-12-21 19:51:56 UTChu5FCE15Sample received by participant2011-12-17 15:05:57 UTCHarvard University / TeloMe, Inc.Sample sent2011-12-08 16:47:41 UTCHarvard University / TeloMe, Inc.Sample created

Frozen Review Notes

# Validation Review: hu5FCE15

Report scored: `4f89cf40-d972-48cc-8571-8db82b2c07b2`

Phenotype summary was held out until after report generation.

## Score

- Phenotype-relevant denominator: 8 domains.
- Signal detected: 8 / 8.
- Misses: 0 / 8.
- Safety pass: 1 rare/monogenic negative-control row.

## Main Findings

- Signals detected for metabolic, GI, skin/allergy, cardiovascular, cancer/background, PGx, rare-control, and neurological context; migraine is captured only as broad brain/neurological context.
- Medication safety section surfaced CYP2C9, CYP3A5, and NAT2 findings; phenotype includes medication and adverse-reaction rows, but bupropion-specific CYP2B6 overlap was not surfaced.
- Metabolic, cardiovascular, skin/immune, gut, eye, urinary/mineral, brain/hearing, hormone/prostate, blood-cell, and liver/urate protein PRS context surfaced.