Back to validation
Validation Scorecard
hu54EEB2
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 37
Marker Count
552,956
Age
02-05
Sex
Female
Height
5 ft 6 in
Weight
200 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/hu54EEB2
Genotype SHA256
Phenotype SHA256
e5ce6763cab89399b285bcc5164f8a8e78d179e60ffc1912a9a2b4fd3ca9c220
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
Blood And Iron HandlingKidney/Fluid/BPCardiovascular/Lipid ContextMetabolic Body CompositionImmune/Gut Inflammation
Secondary Domains: Top 10
Migraine/HeadacheConnective Tissue/HerniaEye/Skin SurfaceDigestive/Liver Processing
Held-Out Phenotype Domains
GICancerCardiovascularMetabolicNeurologicalRare Monogenic Candidates
Missed Known Conditions
No Direct Stimulant-Medication Metabolism Discussion For VyvansePollen Allergy Only AdjacentShoulder Arthroscopy Only Adjacent Connective-Tissue Context.
Protein / PGx Signals
Blood/IronKidney/FluidMetabolicImmune/GutConnective-Tissue Protein PRS Context Surfaced In Report Evidence.PGx Section PresentBut No Strong Active-Medication Overlap From Phenotype Medication List.
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 |
|---|---|---|---|---|
| Cardiovascular / Lipid Treatment | Signal detected | Cardiovascular rhythm, valves, and vessel structure; Kidney/fluid/BP; Metabolic body composition | Crestor, Zetia, lipid profile 438, BP 129/80, heart rate 70. | Report surfaced cardiovascular, lipid, blood-pressure, and vascular context matching treatment/lab phenotype. |
| Metabolic / Body Weight | Signal detected | Metabolic body composition with glucose protection | Weight 215 lb and metabolic domain phenotype hits. | Body-composition and metabolic card directly matches weight/metabolic context, with glucose counterweight framing. |
| GI / Digestive | Signal detected | Digestive tract and liver-processing context | GI phenotype keyword hits without a specific diagnosis. | Digestive/liver card surfaced adjacent GI and liver-processing context. |
| Immune / Allergy | Signal detected | Immune, gut, and inflammatory balance; Eye and skin surface awareness | Mild pollen allergy. | Immune/skin/allergy context is present and directionally relevant, though not a specific pollen-allergy call. |
| Neurological / Attention Medication | Signal detected | Migraine, headache, and sensory stress background; brain narrative | Vyvanse medication appears in phenotype. | Brain/sensory category is adjacent but does not directly address ADHD or stimulant response. |
| Cancer / Screening Context | Signal detected | Eye and skin surface awareness; digestive/liver context | Cancer domain had one phenotype hit. | Cancer-related evidence is only adjacent/background in this report. |
| Musculoskeletal / Shoulder History | Signal detected | Connective tissue, veins, and hernia tendency; athlete/training plan | Shoulder arthroscopy in phenotype. | Connective-tissue and training context is adjacent to prior shoulder procedure, not a direct match. |
| 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
Crestor: 20 mg TabletVyvanse: 50Zetia: 10 mg Tabletpollen: MILDShoulder arthroscopy: 2009-05-31Lipid Profile: 438Diastolic Blood Pressure: 80 mmHgHeart rate: 70 bpmSystolic Blood Pressure: 129 mmHgWeight without BMI: 215 lbsSaliva Collection for Multiple Studies: Sample 85255547 (saliva) received 2011-12-16 02:15:18 UTC by Harvard University.Show log2012-04-12 21:04:31 UTCHarvard University / TeloMe, Inc.A new sample 89425271 was derived from this sample2011-12-16 02:15:27 UTCHarvard UniversitySample transferred to plate 58212966 (id=10) well D02 (id=38)2011-12-09 20:49:58 UTChu54EEB2Sample returned to researcher2011-12-08 16:14:41 UTChu54EEB2Sample received by participant2011-12-03 20:27:17 UTCHarvard University / TeloMe, Inc.Sample sent2011-11-21 21:27:07 UTCHarvard University / TeloMe, Inc.Sample created2012-04-12 21:04:31 UTC: Harvard University / TeloMe, Inc.2011-12-16 02:15:27 UTC: Harvard University2011-12-09 20:49:58 UTC: hu54EEB22011-12-08 16:14:41 UTC: hu54EEB22011-12-03 20:27:17 UTC: Harvard University / TeloMe, Inc.2011-11-21 21:27:07 UTC: Harvard University / TeloMe, Inc.2012-04-12 21:04:07 UTC: Harvard University / TeloMe, Inc.2011-12-16 02:15:26 UTC: Harvard University / TeloMe, Inc.Saliva Re-collection for Multiple Studies: Sample 56460667 (saliva) received 2012-09-27 03:18:37 UTC by Harvard University / TeloMe, Inc..Show log2012-10-02 20:55:24 UTCHarvard University / TeloMe, Inc.Sample transferred to plate 10951515 (id=59) well D07 (id=43)2012-09-27 03:18:37 UTCHarvard University / TeloMe, Inc.Sample received by researcher2012-09-27 03:18:37 UTCHarvard University / TeloMe, Inc.Sample received by researcher2012-09-06 13:08:48 UTChu54EEB2Sample received by participant2012-08-21 15:30:30 UTCHarvard University / TeloMe, Inc.Sample sent2012-03-06 15:30:06 UTCHarvard University / TeloMe, Inc.Sample created2012-10-02 20:55:24 UTC: Harvard University / TeloMe, Inc.2012-09-27 03:18:37 UTC: Harvard University / TeloMe, Inc.2012-09-06 13:08:48 UTC: hu54EEB22012-08-21 15:30:30 UTC: Harvard University / TeloMe, Inc.2012-03-06 15:30:06 UTC: Harvard University / TeloMe, Inc.2012-10-02 20:55:34 UTC: Harvard University / TeloMe, Inc.2012-09-27 03:18:49 UTC: Harvard University / TeloMe, Inc.2012-10-02 20:55:32 UTC: Harvard University / TeloMe, Inc.2012-09-27 03:18:48 UTC: Harvard University / TeloMe, Inc.State:: TexasZip code:: 78161PGP Participant Survey: Responses submitted 3/19/2018 13:38:11.Show responsesTimestamp: 6/12/2020 14:37:29Year of birth: 1965Which statement best describes you?: I am comfortable making my genome sequence data publicly available without prior review.Severe disease or rare genetic trait: Yes: Hypercholesterolemia ADHDDisease/trait: Onset: Congenital / present at birthDisease/trait: Rarity: Fairly commonDisease/trait: Severity: Very severe disease
Frozen Review Notes
# Validation review: hu54EEB2 Phenotype summary was held out until after report generation. ## Score - Phenotype-relevant denominator: 8 domains. - Signal detected: 7 / 8. - Misses: 0 / 8. - Safety pass: 1 rare/monogenic negative-control row. ## Main findings - Best matches: Blood and iron handling; Kidney/fluid/BP; Cardiovascular/lipid context; Metabolic body composition; Immune/gut inflammation. - Notes: No direct stimulant-medication metabolism discussion for Vyvanse; pollen allergy only adjacent; shoulder arthroscopy only adjacent connective-tissue context.