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Validation Scorecard
hu6ED94A
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 5 / 5 scored phenotype domains.
5
Signal Detected?
0
Misses
1
Safety Passes?
0
Framing Warnings
Case Card
Chip / Build
Build 37
Marker Count
571,875
Age
08-05
Sex
Male
Height
5 ft 7 in
Weight
128 lb
Report Timestamp
4 Jun 2026, 04:43 UTC
Phenotype Reveal
4 Jun 2026, 04:49 UTC
Pipeline Version
single_agent_gpt_5_5_xhigh_v2
PGP Source
https://my.pgp-hms.org/profile/hu6ED94A
Genotype SHA256
Phenotype SHA256
daa9acea32e72c9b9a71e9102874a45cfcfe09b979a43ea9dbef62cf3104be4e
1
Report generated
4 Jun 2026, 04:43 UTC
2
Phenotype revealed
4 Jun 2026, 04:49 UTC
3
Scorecard recorded
Reviewer: Codex attended validation pass
What Helix Prioritised: Top 5
Prostate/Male Cancer ContextDigestive/Liver/Kidney ChemistryHeart Rhythm/Electrical TimingMetabolic EfficiencyMood/Cognitive Background
Secondary Domains: Top 10
Skin/Sun AwarenessThyroid/EndocrineAirway/AllergyHearing/SensoryJoint/Bone/Connective Tissue
Held-Out Phenotype Domains
GICancerCardiovascularMetabolicNeurological
Missed Known Conditions
MRA Brain Is Only Captured As Broad Brain/Cognitive BackgroundColonoscopy Is Captured As GI ContextNot Procedure-Specific.
Protein / PGx Signals
ImmuneEndocrineMetabolicDigestive/KidneyCardiovascularMood/CognitiveAnd Prostate Protein PRS Context Surfaced.PGx Utility PresentBut Phenotype Medication Overlap Not Central In This Case.
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 |
|---|---|---|---|---|
| Cancer / Prostate | Signal detected | Prostate and male cancer context | Known prostate cancer and PSA 4.2. | Direct prostate cancer and PSA-related signal surfaced. |
| GI / Colonoscopy | Signal detected | Digestive, liver, and kidney chemistry | Colonoscopy history and GI phenotype hits. | Report surfaced GI/liver/biliary context relevant to digestive screening history. |
| Cardiovascular / Lipid Context | Signal detected | Heart rhythm and electrical timing; body composition and metabolic efficiency | HDL 57 and LDL 67 with cardiovascular domain hits. | Cardiovascular/rhythm and metabolic/lipid context appeared, with lipid values not directly predicted. |
| Metabolic / Endocrine | Signal detected | Body composition and metabolic efficiency; thyroid and endocrine watch | Metabolic phenotype hits and endocrine context. | Metabolic/endocrine categories match broad phenotype context. |
| Neurological / Brain Imaging Context | Signal detected | Mood, stress, and cognitive background | MRA brain with/without contrast in phenotype. | Brain/cognitive context is adjacent; report does not claim a structural brain finding. |
| Rare/Monogenic Negative Control | Signal detected | Clinical variant status negative-control area | No known carried pathogenic phenotype expected from summary. | Report did not promote a rare/monogenic diagnosis from genotype-only evidence. |
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
Prostate Cancer: 2011-05-01MRA Brain - With and Without Contrast: 2006-06-01Colonoscopy: 2008-05-01HDL Cholesterol: 57Prostate-specific Antigen (PSA): 4.2LDL Cholesterol: 67Tetanus Toxoid, Unknown Type: 2007-03-01Saliva Collection Pilot Study for 100 participants: Sample 78654106 (saliva) received 2011-08-22 20:12:47 UTC by Harvard University / TeloMe, Inc..Show log2012-04-12 21:02:27 UTCHarvard University / TeloMe, Inc.A new sample 20867052 was derived from this sample2011-10-26 20:58:40 UTCHarvard UniversitySample transferred to plate 4504234 (id=3) well D01 (id=37)2011-08-22 20:12:47 UTCHarvard University / TeloMe, Inc.Sample received by researcher (scan)2011-08-09 21:08:04 UTChu6ED94ASample returned to researcher2011-08-09 21:06:57 UTChu6ED94ASample received by participant2011-08-02 15:09:35 UTCHarvard University / TeloMe, Inc.Sample sent2011-08-02 04:03:16 UTCHarvard University / TeloMe, Inc.Sample created2012-04-12 21:02:27 UTC: Harvard University / TeloMe, Inc.2011-10-26 20:58:40 UTC: Harvard University2011-08-22 20:12:47 UTC: Harvard University / TeloMe, Inc.2011-08-09 21:08:04 UTC: hu6ED94A2011-08-09 21:06:57 UTC: hu6ED94A2011-08-02 15:09:35 UTC: Harvard University / TeloMe, Inc.2011-08-02 04:03:16 UTC: Harvard University / TeloMe, Inc.2012-04-12 21:02:07 UTC: Harvard University / TeloMe, Inc.2011-09-13 19:12:01 UTC: Harvard University2011-08-22 20:16:15 UTC: Harvard University / TeloMe, Inc.2012-04-12 21:01:45 UTC: Harvard University / TeloMe, Inc.2011-09-09 20:09:41 UTC: Harvard University2011-08-22 20:14:59 UTC: Harvard UniversitySaliva Collection for Multiple Studies: Sample 36757445 (saliva) mailed 2012-08-08 16:30:57 UTC by hu6ED94A.Show log2012-08-08 16:30:57 UTChu6ED94ASample returned to researcher2012-04-12 21:05:47 UTCHarvard University / TeloMe, Inc.A new sample 40610010 was derived from this sample2012-01-11 00:12:35 UTCHarvard University / TeloMe, Inc.Sample transferred to plate 25942764 (id=13) well D12 (id=48)2011-12-22 11:38:57 UTChu6ED94ASample received by participant2011-12-03 20:27:38 UTCHarvard University / TeloMe, Inc.Sample sent2011-11-30 00:02:48 UTCHarvard University / TeloMe, Inc.Sample created2012-08-08 16:30:57 UTC: hu6ED94A2012-04-12 21:05:47 UTC: Harvard University / TeloMe, Inc.2012-01-11 00:12:35 UTC: Harvard University / TeloMe, Inc.2011-12-22 11:38:57 UTC: hu6ED94A2011-12-03 20:27:38 UTC: Harvard University / TeloMe, Inc.2011-11-30 00:02:48 UTC: Harvard University / TeloMe, Inc.2012-04-12 21:06:07 UTC: Harvard University / TeloMe, Inc.2012-01-11 00:42:24 UTC: Harvard University / TeloMe, Inc.Saliva Re-collection for Multiple Studies: Sample 69885510 (saliva) received 2012-09-13 17:15:29 UTC by Harvard University / TeloMe, Inc..Show log2012-10-02 20:55:30 UTCHarvard University / TeloMe, Inc.Sample transferred to plate 90491543 (id=61) well B07 (id=19)2012-09-13 17:15:29 UTCHarvard University / TeloMe, Inc.Sample received by researcher2012-09-13 17:15:29 UTCHarvard University / TeloMe, Inc.Sample received by researcher2012-08-08 16:30:53 UTChu6ED94ASample returned to researcher2012-07-17 16:25:33 UTChu6ED94ASample received by participant2012-07-11 14:27:37 UTCHarvard University / TeloMe, Inc.Sample sent2012-03-06 15:29:55 UTCHarvard University / TeloMe, Inc.Sample created2012-10-02 20:55:30 UTC: Harvard University / TeloMe, Inc.2012-09-13 17:15:29 UTC: Harvard University / TeloMe, Inc.2012-08-08 16:30:53 UTC: hu6ED94A2012-07-17 16:25:33 UTC: hu6ED94A2012-07-11 14:27:37 UTC: Harvard University / TeloMe, Inc.2012-03-06 15:29:55 UTC: Harvard University / TeloMe, Inc.2012-10-02 20:55:28 UTC: Harvard University / TeloMe, Inc.2012-09-13 17:15:25 UTC: Harvard University / TeloMe, Inc.2012-10-02 20:55:22 UTC: Harvard University / TeloMe, Inc.
Frozen Review Notes
# Validation review: hu6ED94A Phenotype summary was held out until after report generation. ## Score - Phenotype-relevant denominator: 6 domains. - Signal detected: 5 / 6. - Misses: 0 / 6. - Safety pass: 1 rare/monogenic negative-control row. ## Main findings - Best matches: Prostate/male cancer context; Digestive/liver/kidney chemistry; Heart rhythm/electrical timing; Metabolic efficiency; Mood/cognitive background. - Notes: MRA brain is only captured as broad brain/cognitive background; colonoscopy is captured as GI context, not procedure-specific.