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Validation Scorecard
hu6B7829
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
553,751
Age
53
Sex
Female
Height
5 ft 5 in
Weight
140 lb
Report Timestamp
4 Jun 2026, 04:45 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/hu6B7829
Genotype SHA256
Phenotype SHA256
3b84ada339bc80164e572205acc553c4def0e87cc8f0f2b6bbebc97b92168880
1
Report generated
4 Jun 2026, 04:45 UTC
2
Phenotype revealed
4 Jun 2026, 04:49 UTC
3
Scorecard recorded
Reviewer: Codex attended validation pass
What Helix Prioritised: Top 5
Skin/Barrier And Non-Melanoma Skin CancerImmune/Gut InflammationBody Composition/Metabolic ContrastGallbladder/Bile HandlingSleep/Mood/Recovery
Secondary Domains: Top 10
Cancer Screening BackgroundBlood-Cell/PlateletKidney/Mineral HydrationThyroid/HormoneVision/Eye ShapeConnective Tissue/Joints
Held-Out Phenotype Domains
GIAutoimmune InflammatoryCancerMetabolicNeurologicalPharmacogenomics
Missed Known Conditions
PGP Survey Pharmacogenomics Domain Was Only Weakly CapturedSurvey-Only Domains With No Specific Condition Are Scored As Broad Context.
Protein / PGx Signals
Immune/GutSkinMetabolicKidneyThyroid/HormoneBlood-CellAnd Cancer Protein PRS Context Surfaced.PGx Utility Exists In Report EvidenceBut No Strong Medication-Specific Phenotype Overlap Was Present.
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 |
|---|---|---|---|---|
| Skin / Contact Dermatitis | Signal detected | Skin, hair, and barrier resilience; immune and gut inflammation background | Allergic contact dermatitis and skin tags. | Skin barrier and inflammatory skin context directly surfaced. |
| Cancer / Non-Melanoma Skin Cancer | Signal detected | Skin, hair, and barrier resilience; cancer background and routine screening context | Non-melanoma skin cancer diagnosis and cancer survey responses. | Skin/cancer context appeared directly and with routine-screening framing. |
| Immune / Inflammatory | Signal detected | Immune and gut inflammation background | Autoimmune/inflammatory phenotype domain hits. | Report surfaced broad immune, celiac, bowel, and inflammatory-marker context. |
| GI / Digestive | Signal detected | Gallbladder and bile handling; immune and gut inflammation background | Digestive-system survey responses and GI domain hits. | GI context is present, especially gallbladder/bile and gut inflammation. |
| Metabolic / Body Composition | Signal detected | Body composition and metabolic contrast | Endocrine/metabolic survey responses and metabolic domain hits. | Report surfaced metabolic contrast and body-composition context. |
| Neurological / Sleep Mood | Signal detected | Sleep, mood, and recovery load | Nervous-system survey responses and neurological domain hits. | Sleep/mood/recovery category matches broad neurological/survey context. |
| Pharmacogenomics | Signal detected | Medication safety / PGx utility section | Pharmacogenomics domain hits in phenotype summary. | PGx utility is available, but the main signal cards did not center a medication-specific 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
State:: VirginiaZip code:: 22203PGP Participant Survey: Responses submitted 7/3/2013 19:21:24.Show responsesTimestamp: 6/12/2020 12:22:18Year of birth: 40-49 yearsSex/Gender: FemaleRace/ethnicity: WhiteMaternal grandmother: Country of origin: United StatesPaternal grandmother: Country of origin: United StatesPaternal grandfather: Country of origin: United StatesMaternal grandfather: Country of origin: United StatesEnrollment of older individuals: YesEnrollment of parents: MaybeHave you uploaded genetic data to your PGP participant profile?: No, I have no genetic data.Have you used the PGP web interface to record a designated proxy?: YesHave you uploaded health record data using our Google Health or Microsoft Healthvault interfaces?: No, but I plan toBlood sample: YesSaliva sample: YesMicrobiome samples: YesTissue samples from surgery: YesTissue samples from autopsy: YesPGP Trait & Disease Survey 2012: Cancers: Responses submitted 3/4/2014 2:48:12.Show responsesPGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity: Responses submitted 7/3/2013 19:24:17.Show responsesPGP Trait & Disease Survey 2012: Blood: Responses submitted 7/3/2013 19:25:01.Show responsesHave you ever been diagnosed with any of the following conditions?: Allergic contact dermatitis, Skin tagsPGP Trait & Disease Survey 2012: Nervous System: Responses submitted 7/3/2013 19:26:09.Show responsesHave you ever been diagnosed with one of the following conditions?: Non-melanoma skin cancerPGP Trait & Disease Survey 2012: Vision and hearing: Responses submitted 7/3/2013 19:27:02.Show responsesPGP Trait & Disease Survey 2012: Circulatory System: Responses submitted 7/3/2013 19:28:07.Show responsesPGP Trait & Disease Survey 2012: Respiratory System: Responses submitted 7/3/2013 19:29:05.Show responsesPGP Trait & Disease Survey 2012: Digestive System: Responses submitted 7/3/2013 19:30:11.Show responsesPGP Trait & Disease Survey 2012: Genitourinary Systems: Responses submitted 7/3/2013 19:30:50.Show responsesPGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue: Responses submitted 3/4/2014 2:46:16.Show responsesPGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue: Responses submitted 7/3/2013 19:32:31.Show responsesPGP Trait & Disease Survey 2012: Congenital Traits and Anomalies: Responses submitted 7/3/2013 19:33:27.Show responsesPGP Basic Phenotypes Survey 2015: Responses submitted 12/11/2016 20:15:46.Show responses1 — Blood Type: A +2 — Height: 5'5"3 — Weight: 140gl/XQ2Voh): 1
Frozen Review Notes
# Validation review: hu6B7829 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: Skin/barrier and non-melanoma skin cancer; Immune/gut inflammation; Body composition/metabolic contrast; Gallbladder/bile handling; Sleep/mood/recovery. - Notes: PGP survey pharmacogenomics domain was only weakly captured; survey-only domains with no specific condition are scored as broad context.