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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.
| Domain | Score | What Helix Prioritised | Held-Out Phenotype Evidence | Rationale |
|---|---|---|---|---|
| Metabolic / BMI And Thyroid | Signal detected | Glucose Handling With Lean-Body Counterweight; Thyroid And Hormone Signaling Context; Strength, Lean Mass, And Recovery | BMI/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, Migraine | Signal detected | Mood, Attention, Sleep, And Reward Sensitivity | Headache, sleep, and migraine keywords were present. | Report directly surfaced sleep difficulty, attention, mood, reward sensitivity, and related neurological context. |
| Pharmacogenomics / Medication Context | Signal detected | Medication safety / PGx utility section | Medication-domain phenotype hits were present. | Separate medication safety section surfaced ABCG2, CYP2B6, CYP3A5, SLCO1B1, and UGT1A1 findings. |
| GI / Digestive And Ulcer | Signal detected | Gut And Immune Inflammation Pattern; Gallbladder, Bile, And Bilirubin Tendency | Digestive and ulcer keywords appeared in the phenotype summary. | Report surfaced gut/immune inflammation, celiac/mouth-ulcer context, and gallbladder/bile context. |
| Cardiovascular / Cholesterol | Signal detected | Heart, Valve, Vessel, And Lipid Context | Cholesterol keyword appeared in the phenotype summary. | Report directly surfaced mixed heart, vessel, valve, rhythm, blood-pressure, vein, and lipid context. |
| Autoimmune-Inflammatory / Allergy | Signal detected | Gut And Immune Inflammation Pattern; Skin, Sun Response, And Visible Aging | Allergy keyword appeared in held-out phenotype. | Report surfaced immune sensitivity and skin/dermatitis context, adjacent to allergy phenotype. |
| Cancer / Screening Background | Signal detected | Screening-Sensitive Cancer Background; Skin, Sun Response, And Visible Aging | Cancer keyword appeared in phenotype summary. | Report surfaced cancer-background and skin-cancer/keratosis context while keeping screening-oriented framing. |
| Rare/Monogenic Candidate Context | Signal detected | Clinical variant status negative-control area; multiple background cards | Syndrome 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 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/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.