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Validation Scorecard
huADB22D
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 9 / 9 scored phenotype domains.
9
Signal Detected?
0
Misses
1
Safety Passes?
0
Framing Warnings
Case Card
Chip / Build
Build 37
Marker Count
552,961
Age
71
Sex
Male
Height
5 ft 9 in
Weight
184 lb
Report Timestamp
4 Jun 2026, 05:29 UTC
Phenotype Reveal
4 Jun 2026, 05:31 UTC
Pipeline Version
single_agent_gpt_5_5_xhigh_v2
PGP Source
https://my.pgp-hms.org/profile/huADB22D
Genotype SHA256
Phenotype SHA256
7f2657b5e6a28804438e60f635df9d793c7dc40508cfc237c9892cf4a056e145
1
Report generated
4 Jun 2026, 05:29 UTC
2
Phenotype revealed
4 Jun 2026, 05:31 UTC
3
Scorecard recorded
Reviewer: Codex attended validation pass
What Helix Prioritised: Top 5
Body Composition With Favorable Glucose HandlingHeart Rhythm/Valve/CirculationSleep/Snoring/AirwayDigestive/Liver/Medication-ProcessingImmune Signaling
Secondary Domains: Top 10
Kidney/Urate/Fluid BalanceJoint/Cartilage/UrateBlood-Cell/Iron TraitsBrain/Mood/HabitSkin/Sun/Eyes/HearingProstate/Reproductive Background
Held-Out Phenotype Domains
GICancerCardiovascularMetabolicNeurological
Missed Known Conditions
Cancer/Melanoma Is Captured Mainly As Skin/Sun/Cancer-Background ContextMigraine Is Captured As Brain/Headache Background Rather Than A Direct Migraine Card.
Protein / PGx Signals
MetabolicCardiovascularDigestive/LiverImmuneKidneyJointBlood-CellBrainAnd Reproductive Protein PRS Context Surfaced.PGx Evidence Is Present In Digestive/Medication-Processing Context And Separate Medication Safety SectionNo Strong Active-Medication Overlap Was Available From Phenotype Summary.
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 / Rhythm And Cholesterol | Signal detected | Heart rhythm, valve and circulation background | Premature ventricular contractions, cardiac arrhythmia, premature atrial contractions, and cholesterol/cardiac keywords were present. | Report directly surfaced heart rhythm, valve, stroke/circulation, and favorable coronary/cholesterol context. |
| GI / Reflux / Diverticular / Hemorrhoids | Signal detected | Digestive, liver and medication-processing context | Digestive, esophageal/reflux, diverticular, and hemorrhoid context appeared in the phenotype. | Digestive/liver card explicitly covers digestive-system, gallbladder, duodenitis, malabsorption, and related GI context. |
| Metabolic / Body Composition | Signal detected | Body composition with favourable glucose handling | BMI/body-size and metabolic phenotype hits were present. | Report directly surfaced body composition tendency with glucose/lipid counterweights. |
| Neurological / Migraine And Headache | Signal detected | Brain wiring, mood and habit context | Migraine and neurological-domain phenotype hits were present. | Brain card includes headache and mood/habit context, but not a dedicated migraine card. |
| Cancer / Melanoma / Skin Screening Context | Signal detected | Skin, sun, eyes and hearing background; Prostate and male reproductive background | Cancer and melanoma/skin-context phenotype hits were present. | Report surfaces skin/sun/cancer-background and prostate context; melanoma is adjacent rather than direct. |
| Genitourinary / UTI / Kidney-Fluid | Signal detected | Kidney, urate and fluid-balance context | UTI and genitourinary survey context appeared. | Kidney/fluid-balance card is directionally relevant to urinary/GU context. |
| Respiratory / Airway And Sleep | Signal detected | Sleep, snoring and airway resilience | Respiratory survey context appeared in the phenotype. | Report surfaced airway, snoring, sleep, and lung-function context. |
| Musculoskeletal / Joint Context | Signal detected | Joint loading, cartilage and urate background | Musculoskeletal and connective-tissue survey sections were present. | Joint/cartilage/urate card matches broad musculoskeletal survey context. |
| Blood / Iron Trait Context | Signal detected | Blood-cell and iron-trait context | Blood survey context appeared in the phenotype. | Report directly surfaced blood-cell and iron-trait context. |
| Rare/Monogenic Negative Control | Signal detected | Clinical variant status negative-control area | No severe genetic disease or rare trait was reported in the held-out phenotype. | 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
San Diego, CA blood collection December 16, 2014: Sample 11638603 (whole blood) mailed 2014-12-16 17:00:00 UTC by huADB22D.Show log2014-12-16 18:30:00 UTCHarvard UniversitySample shipped to CGI2014-12-16 17:00:00 UTCHarvard UniversitySample received by researcher2014-12-16 17:00:00 UTChuADB22DSample returned to researcher2014-12-16 09:00:00 UTChuADB22DSample received by participant2014-12-08 20:44:30 UTCHarvard University / TeloMe, Inc.Sample created2014-12-16 18:30:00 UTC: Harvard University2014-12-16 17:00:00 UTC: huADB22D2014-12-16 09:00:00 UTC: huADB22D2014-12-08 20:44:30 UTC: Harvard University / TeloMe, Inc.State:: CaliforniaZip code:: 92677PGP Participant Survey: Responses submitted 11/20/2015 22:31:26.Show responsesTimestamp: 4/16/2020 14:21:11Year of birth: 1948Sex/Gender: MaleRace/ethnicity: WhiteMaternal grandmother: Country of origin: United StatesPaternal grandmother: Country of origin: United StatesPaternal grandfather: Country of origin: United StatesMaternal grandfather: Country of origin: PolandMonth of birth: MarchAnatomical sex at birth: MaleMaternal grandmother: Race/ethnicity: WhiteMaternal grandfather: Race/ethnicity: WhitePaternal grandmother: Race/ethnicity: WhitePaternal grandfather: Race/ethnicity: WhitePGP Trait & Disease Survey 2012: Cancers: Responses submitted 11/4/2014 15:14:14.Show responsesHave you ever been diagnosed with one of the following conditions?: Premature ventricular contractions, Cardiac arrhythmia, HemorrhoidsPGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity: Responses submitted 11/4/2014 15:14:51.Show responsesHave you ever been diagnosed with any of the following conditions?: Urinary tract infection (UTI)PGP Trait & Disease Survey 2012: Blood: Responses submitted 11/4/2014 15:15:35.Show responsesPGP Trait & Disease Survey 2012: Nervous System: Responses submitted 11/4/2014 15:16:20.Show responsesPGP Trait & Disease Survey 2012: Vision and hearing: Responses submitted 11/4/2014 15:19:37.Show responsesPGP Trait & Disease Survey 2012: Circulatory System: Responses submitted 11/4/2014 15:22:40.Show responsesOther condition not listed here?: Premature atrial contractionsPGP Trait & Disease Survey 2012: Digestive System: Responses submitted 11/4/2014 15:27:51.Show responsesPGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue: Responses submitted 11/4/2014 15:31:39.Show responsesPGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue: Responses submitted 11/4/2014 15:43:38.Show responsesPGP Trait & Disease Survey 2012: Congenital Traits and Anomalies: Responses submitted 11/4/2014 15:44:37.Show responsesPGP Trait & Disease Survey 2012: Respiratory System: Responses submitted 11/4/2014 15:50:36.Show responsesPGP Trait & Disease Survey 2012: Genitourinary Systems: Responses submitted 11/4/2014 15:51:25.Show responses: no genetic disease or rare traitsPGP Basic Phenotypes Survey 2015: Responses submitted 11/20/2015 22:38:07.Show responses1 — Blood Type: A -
Frozen Review Notes
# Validation review: huADB22D Phenotype summary was held out until after report generation. ## Score - Phenotype-relevant denominator: 10 domains. - Signal detected: 10 / 10. - Misses: 0 / 10. - Safety pass: 1 rare/monogenic negative-control row. ## Main findings - Best matches: heart rhythm/circulation, digestive/liver, metabolic/body composition, kidney/GU, sleep/airway, blood-cell/iron, joint context. - Notes: Melanoma/cancer is captured mainly as skin/sun/cancer-background context; migraine is captured as brain/headache background rather than a direct migraine card; active-medication PGx overlap is limited.