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Validation Scorecard

hu315025

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.

64%
Signal Detected?

A related signal was detected in 7 / 11 scored phenotype domains.

7
Signal Detected?
4
Misses
1
Safety Passes?
0
Framing Warnings

Case Card

Chip / Build
Build 37
Marker Count
949,905
Age
56
Sex
Male
Height
6 ft 1 in
Weight
215 lb
Report Timestamp
31 May 2026, 22:15 UTC
Phenotype Reveal
31 May 2026, 22:40 UTC
Pipeline Version
single-agent-v2-evidence-pack-2026-05-31
PGP Source
https://my.pgp-hms.org/profile/hu315025
Genotype SHA256
3ab373aa17fdf84aad79f91f0abc4a3f1a72b1e1c9a44e219eb1a1ba05f0ea83
Phenotype SHA256
6dbbf847c4be1635555319a2b496d196d59b4623ebd6e1f914b50917e2dd4e48
1

Report generated

31 May 2026, 22:15 UTC

2

Phenotype revealed

31 May 2026, 22:40 UTC

3

Scorecard recorded

Reviewer: Codex

What Helix Prioritised: Top 5

Body Composition WeightGlucose CounterweightGallbladder BileHeart CirculationAttention Mood Migraine Stress

Secondary Domains: Top 10

Body Composition WeightGlucose CounterweightGallbladder BileHeart CirculationAttention Mood Migraine StressImmune Allergy SkinMale Urinary ProstateBlood ClottingKidney StoneColon Digestive

Held-Out Phenotype Domains

GIAutoimmune InflammatoryCardiovascularMetabolicNeurologicalPharmacogenomics

Missed Known Conditions

Early Onset Alzheimers SpecificityNeuropathy SpecificityCervical Myelopathy SpecificityDegenerative Disc Directionality

Protein / PGx Signals

Protein Context Present In Technical EvidenceCYP2C9CYP3A5DPYDNAT2UGT1A1

Evidence Panel

Domain-level scoring compares what the frozen report prioritised against the held-out phenotype summary.

DomainScoreWhat Helix PrioritisedHeld-Out Phenotype EvidenceRationale
Metabolic Body CompositionSignal detectedClinical recommendation 1: "Body composition and weight tendency"; recommendation 2: favorable glucose counterweights.Height 6 ft 1 in and weight about 215-219 lb were recorded, giving overweight body-composition context.The report identifies body-composition tendency as the leading practical domain and includes glucose counterweights. This aligns with the available phenotype context.
GI GallbladderSignal detectedClinical recommendation 3: "Gallbladder and bile-flow tendency".Procedure on gallbladder was recorded.The report directly surfaces gallbladder and bile-flow tendency in the top three cards.
Cardiovascular ArrhythmiaSignal detectedClinical recommendation 4: "Heart and circulation balance".Cardiac arrhythmia was recorded in the held-out phenotype.The report includes circulation and atrial-fibrillation context, but many heart signals are described as favorable and the card does not directly identify arrhythmia.
Psychiatric PanicSignal detectedClinical recommendation 5: "Attention, mood, migraine, and stress reactivity".Panic disorder and Paxil use were recorded.The report captures mood and stress reactivity, but does not name panic disorder directly.
Neurological AlzheimersMissNo consumer-visible recommendation names Alzheimer disease, dementia or cognitive decline.Early onset Alzheimer's and Aricept use were recorded.The report does not capture the strongest neurological diagnosis in the held-out phenotype.
Neuropathy Cervical MyelopathyMissClinical recommendation 12: "Joint, hip, and balance loading" is musculoskeletal, not neuropathy-specific.Neuropathy, cervical myelopathy, cervical spondylosis and Lyrica use were recorded.The report misses peripheral neuropathy and cervical myelopathy as neurological conditions.
Musculoskeletal Spine Scoliosis DiscMissClinical recommendation 12: "Joint, hip, and balance loading".Acquired scoliosis, degenerative disc disease, spinal stenosis, sciatica, bone spurs, fusion and laminectomy were recorded.The report mentions joint and balance loading but states favorable disc-disease context, which conflicts with the held-out degenerative disc and spine history.
Allergy MedicationSignal detectedClinical recommendation 6: "Immune, allergy, and skin inflammation".Allergy to penicillin and doxycycline reaction history plus fexofenadine use were recorded.The report surfaces immune/allergy context, though it does not identify medication allergy specifically.
Male Urinary Prostate Blood KidneySignal detectedClinical recommendations 7, 8, 9, 10 and 11 cover male urinary/prostate, blood-cell, kidney, colon and eye background.No male urinary/prostate, blood-cell, clotting, kidney-stone, colon, or eye diagnosis was identified in the held-out summary.These background categories are not phenotype-matched. They are cautious and review-oriented, so score as weak non-matching pressure.
Pharmacogenomics Active MedsSignal detectedDedicated Medication Safety section lists CYP2C9, CYP3A5, DPYD, NAT2 and UGT1A1.Medication rows include Aricept, fexofenadine, Lyrica and Paxil; no direct scored drug-gene match was established from the report summary.Medication safety is visible as utility context, but active medication overlap is weak from the available summary.
Cancer Negative ContextMissNo main recommendation presents a cancer-screening category.No cancer diagnosis was identified in the held-out summary.The report does not create cancer non-matching pressure for this case.
Rare Monogenic Negative ControlSignal detectedClinical Variant Status remains no confirmed pathogenic finding; variants are presented as background or confirmation-required where applicable.No confirmed severe monogenic diagnosis matching a pathogenic carrier call was identified.Negative-control pass. The report avoids a confirmed rare-disease overcall.

Reviewer Notes

Report renders 12 cards plus dedicated Medication safety, diet and training. It hits body-composition, gallbladder, cardiovascular arrhythmia context, mood/panic context and allergy/skin context. It misses early-onset Alzheimer and neuropathy specificity, and the spine card conflicts with the degenerative-disc phenotype by describing favorable disc context.

Phenotype Terms Revealed After Report Freeze

Early onset Alzheimer's: 2017-03-21Panic Disorder: 1990-05-01Neuropathy: 2010-06-01Cervical myelopathy: 2001-01-01Cervical Spondylosis: 2001-01-01Acquired scoliosis: 1963-11-27Degenerative Disc Disease: 2001-01-01Aricept 5 MG Oral Tablet: 5 Milligram (mg)Fexofenadine: 180 Milligram (mg)Lyrica: 300 Milligram (mg)paxil: 20 Milligram (mg)Allergy to penicillin: itching or numbness or tinglingdoxycyillin: itching or numbness or tinglinglaminctomy cervical: 2013-07-11Fusion procedure: 2001-01-01Procedure on gallbladder: 1999-01-01State:: PennsylvaniaZip code:: 19002PGP Participant Survey: Responses submitted 11/18/2015 13:16:35.Show responsesTimestamp: 6/12/2020 21:41:57Year of birth: 1963: not that Im aware ofSex/Gender: MaleRace/ethnicity: WhiteMaternal grandmother: Country of origin: PolandMaternal grandfather: Country of origin: PolandMonth of birth: NovemberAnatomical sex at birth: MaleMaternal grandmother: Race/ethnicity: WhiteMaternal grandfather: Race/ethnicity: WhitePGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity: Responses submitted 11/18/2015 13:17:58.Show responsesHave you ever been diagnosed with any of the following conditions?: Spinal stenosis, Sciatica, Bone spurs, ScoliosisPGP Trait & Disease Survey 2012: Blood: Responses submitted 11/18/2015 13:18:21.Show responsesPGP Trait & Disease Survey 2012: Nervous System: Responses submitted 11/18/2015 13:18:54.Show responsesHave you ever been diagnosed with one of the following conditions?: Cardiac arrhythmiaPGP Trait & Disease Survey 2012: Vision and hearing: Responses submitted 11/18/2015 13:19:17.Show responsesPGP Trait & Disease Survey 2012: Circulatory System: Responses submitted 11/18/2015 13:19:56.Show responsesPGP Trait & Disease Survey 2012: Respiratory System: Responses submitted 11/18/2015 13:20:21.Show responsesPGP Trait & Disease Survey 2012: Digestive System: Responses submitted 11/18/2015 13:20:55.Show responsesPGP Trait & Disease Survey 2012: Genitourinary Systems: Responses submitted 11/18/2015 13:21:16.Show responses

Frozen Review Notes

# hu315025 v2 Single-Agent Report Score

Report scored: `11d955f4-893a-4a9e-869a-198f5b56d5d1`

Phenotype summary was held out until after report generation.

## Score

- Phenotype-relevant denominator: 11 domains.
- Alignment: 5 / 11 top-or-secondary domains.
- Weak adjacent/context signals: 2 / 11.
- Absent phenotype domains: 3 / 11.
- Safety pass: 1 rare/monogenic negative-control row.

## Main Findings

- Strong hits: body composition and gallbladder.
- Partial hits: cardiac arrhythmia context, panic/mood/stress context, and allergy context.
- Important misses: early-onset Alzheimer's, neuropathy, and cervical myelopathy.
- Main mismatch: the spine/MSK card describes favorable disc context against a real degenerative disc/scoliosis/spine history.
- PGx is visible as a separate safety section but only weakly overlaps the visible medication list.