Back to validation
Validation Scorecard

hu7DE7FD

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
950,749
Age
03-14
Sex
Female
Height
5 ft 1 in
Weight
99 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/hu7DE7FD
Genotype SHA256
Phenotype SHA256
2240c5ee4c0fc9e2f8854c341150391d85c34db61537b60fbb546f4895f80793
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

Glucose Handling With Lean-Body CounterweightGut And Immune Inflammation PatternMood/Attention/Sleep/Reward SensitivityLung Function And Airway ReserveGallbladder/Bile/Bilirubin Tendency

Secondary Domains: Top 10

Thyroid/Hormone SignalingHeart/Valve/Vessel/Lipid ContextKidney Marker DivergenceBlood Count/Immune-Cell BalanceJoint/Connective-Tissue LoadStrength/Lean Mass/RecoverySkin/Sun ResponseCancer Background

Held-Out Phenotype Domains

GIAutoimmune InflammatoryCancerCardiovascularMetabolicNeurologicalPharmacogenomicsRare Monogenic Candidates

Missed Known Conditions

No missed conditions recorded

Protein / PGx Signals

Gut/ImmuneMetabolicHormoneCardiovascularKidneyBlood-CellMusculoskeletalSkinAnd Cancer Protein PRS Context Surfaced.PGx Section Surfaced ABCG2CYP2B6CYP3A5SLCO1B1And UGT1A1 FindingsPhenotype Had Medication-Domain Hits.

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 ThyroidSignal detectedGlucose Handling With Lean-Body Counterweight; Thyroid And Hormone Signaling Context; Strength, Lean Mass, And RecoveryBMI/body-size and thyroid keywords were present in the phenotype summary.Report directly surfaced glucose handling, lean/body composition, thyroid, hormone, and recovery context.
Neurological / Headache, Sleep, MigraineSignal detectedMood, Attention, Sleep, And Reward SensitivityHeadache, sleep, and migraine keywords were present.Report directly surfaced sleep difficulty, attention, mood, reward sensitivity, and related neurological context.
Pharmacogenomics / Medication ContextSignal detectedMedication safety / PGx utility sectionMedication-domain phenotype hits were present.Separate medication safety section surfaced ABCG2, CYP2B6, CYP3A5, SLCO1B1, and UGT1A1 findings.
GI / Digestive And UlcerSignal detectedGut And Immune Inflammation Pattern; Gallbladder, Bile, And Bilirubin TendencyDigestive and ulcer keywords appeared in the phenotype summary.Report surfaced gut/immune inflammation, celiac/mouth-ulcer context, and gallbladder/bile context.
Cardiovascular / CholesterolSignal detectedHeart, Valve, Vessel, And Lipid ContextCholesterol keyword appeared in the phenotype summary.Report directly surfaced mixed heart, vessel, valve, rhythm, blood-pressure, vein, and lipid context.
Autoimmune-Inflammatory / AllergySignal detectedGut And Immune Inflammation Pattern; Skin, Sun Response, And Visible AgingAllergy keyword appeared in held-out phenotype.Report surfaced immune sensitivity and skin/dermatitis context, adjacent to allergy phenotype.
Cancer / Screening BackgroundSignal detectedScreening-Sensitive Cancer Background; Skin, Sun Response, And Visible AgingCancer keyword appeared in phenotype summary.Report surfaced cancer-background and skin-cancer/keratosis context while keeping screening-oriented framing.
Rare/Monogenic Candidate ContextSignal detectedClinical variant status negative-control area; multiple background cardsSyndrome keyword appeared, but genotype-only diagnosis should remain controlled.Report kept variant findings contextual and did not assert a rare/monogenic 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/thyroid, neurological/headache/sleep/migraine, PGx, GI/ulcer, cardiovascular/cholesterol, allergy/immune, cancer, and rare-context control; all phenotype domains had signal coverage.

Phenotype Terms Revealed After Report Freeze

Pregnancy: 2003-08-01Whooping Cough: 2009-02-01Fifth disease: 2009-01-01Chickenpox with complication: 1991-03-01Myopia: 1983-01-01Tendinitis: 2000-01-01Hypoglycemia: 1980-01-01Hypothyroidism: 2011-01-01Vitamin D: 400 Milligram (mg)Fish Oil, oral capsule: 1000mg05 MG Oral Tablet: 0.05 Milligram (mg)Allergy to sulfonamides: hives (red, raised, itchy bumps)cat: nasal congestion / runny noseMAMMOGRAPHY: 2011-01-26Cholesterol, Total: 163 milligrams per deciliterInfluenza Vaccine: 2010-10-01Immune Globulin (IG): 1987-01-01Human papillomavirus vaccine (HPV): 2010-01-01Diphtheria, tetanus, pertussis vaccine (DtaP): 2009-03-01Hepatits A and Hepatitis B vaccine (HepA/HepB): 1997-01-01Measles, mumps, rubella vaccine (MMR): 1991-01-01Saliva Collection for Multiple Studies: Sample 73044774 (saliva) received 2011-12-16 01:50:11 UTC by Harvard University.Show log2012-04-12 21:04:29 UTCHarvard University / TeloMe, Inc.A new sample 11849228 was derived from this sample2011-12-16 01:50:21 UTCHarvard UniversitySample transferred to plate 58212966 (id=10) well A12 (id=12)2011-12-07 02:31:25 UTChu7DE7FDSample returned to researcher2011-12-07 00:58:54 UTChu7DE7FDSample received by participant2011-12-02 03:56:50 UTCHarvard University / TeloMe, Inc.Sample sent2011-11-21 21:26:53 UTCHarvard University / TeloMe, Inc.Sample created2012-04-12 21:04:29 UTC: Harvard University / TeloMe, Inc.2011-12-16 01:50:21 UTC: Harvard University2011-12-07 02:31:25 UTC: hu7DE7FD2011-12-07 00:58:54 UTC: hu7DE7FD2011-12-02 03:56:50 UTC: Harvard University / TeloMe, Inc.2011-11-21 21:26:53 UTC: Harvard University / TeloMe, Inc.2012-04-12 21:04:04 UTC: Harvard University / TeloMe, Inc.2011-12-16 01:50:19 UTC: Harvard University / TeloMe, Inc.Saliva Re-collection for Multiple Studies: Sample 9609984 (saliva) received 2012-05-07 23:10:11 UTC by Harvard University / TeloMe, Inc..Show log2012-05-07 23:10:11 UTCHarvard University / TeloMe, Inc.Sample received by researcher2012-04-07 13:21:57 UTChu7DE7FDSample returned to researcher2012-04-07 12:57:52 UTChu7DE7FDSample received by participant2012-04-04 17:15:40 UTCHarvard University / TeloMe, Inc.Sample sent2012-03-06 15:29:35 UTCHarvard University / TeloMe, Inc.Sample created2012-05-07 23:10:11 UTC: Harvard University / TeloMe, Inc.2012-04-07 13:21:57 UTC: hu7DE7FD2012-04-07 12:57:52 UTC: hu7DE7FD2012-04-04 17:15:40 UTC: Harvard University / TeloMe, Inc.2012-03-06 15:29:35 UTC: Harvard University / TeloMe, Inc.2012-05-07 23:10:25 UTC: Harvard University / TeloMe, Inc.2012-05-07 23:10:07 UTC: Harvard University / TeloMe, Inc.State:: ColoradoZip code:: 80304

Frozen Review Notes

# Validation review: hu7DE7FD

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/thyroid, neurological/headache/sleep/migraine, PGx, GI/ulcer, cardiovascular/cholesterol, allergy/immune, cancer, and rare-context control
- all phenotype domains had signal coverage.