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Validation Scorecard
huDBDF82
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
07-19
Sex
Female
Height
5 ft 1 in
Weight
140 lb
Report Timestamp
4 Jun 2026, 05:25 UTC
Phenotype Reveal
4 Jun 2026, 05:27 UTC
Pipeline Version
single_agent_gpt_5_5_xhigh_v2
PGP Source
https://my.pgp-hms.org/profile/huDBDF82
Genotype SHA256
Phenotype SHA256
274ccf534fc645c7b1c5a5797763e08ddab12017a8d0948537826edf0eab4c80
1
Report generated
4 Jun 2026, 05:25 UTC
2
Phenotype revealed
4 Jun 2026, 05:27 UTC
3
Scorecard recorded
Reviewer: Codex attended validation pass
What Helix Prioritised: Top 5
Blood Clotting/Vein CirculationBreast/Female Cancer AwarenessGut Inflammation/Diverticular/Colorectal ContextBody Composition With Favorable Sugar/Lipid BalanceSkin/Sun/Retina
Secondary Domains: Top 10
Immune SignalingAirway/Snoring/SleepJoint/Spine/Fall ResilienceLiver-Kidney ChemistryThyroid/Hormone/B12Brain/Nerve/Hearing/Mood Background
Held-Out Phenotype Domains
GIAutoimmune InflammatoryCancerCardiovascularMetabolicPharmacogenomics
Missed Known Conditions
Respiratory Pneumonia History Is Only Adjacent Airway/Immune ContextHypertension Is Broad Cardiovascular/Metabolic Context Rather Than A Direct Hypertension Card.
Protein / PGx Signals
ImmuneGutMetabolicLiver-KidneyJoint/SpineThyroid/HormoneCancerAnd Blood/Vein Protein PRS Context Surfaced.PGx Section Surfaced CYP2B6CYP3A5NAT2And UGT1A1 FindingsActive-Medication Overlap Is Limited From Phenotype 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 |
|---|---|---|---|---|
| Eye / Retina / Hearing | Signal detected | Skin, sun response, and retina; Brain, nerve, hearing, and mood-background | Age-related cataract, myopia, astigmatism, sensorineural hearing loss, and pseudo-exfoliation were present in the held-out phenotype. | Report directly surfaced retina/eye protection context and a hearing/nerve background card. |
| Musculoskeletal / Osteoarthritis And Shoulder | Signal detected | Joint, spine, and fall resilience | Osteoarthritis, rotator cuff tear, and bone spurs were reported. | Joint, spine, knee, foot, and fall-resilience card directly matches musculoskeletal phenotype context. |
| Metabolic / Thyroid / Body Composition | Signal detected | Body composition with favorable sugar and lipid balance; Thyroid, hormone, and B12 background | Synthroid use, BMI/body-size context, and metabolic phenotype hits were present. | Report surfaced body composition and thyroid/hormone context, with favorable sugar/lipid counterweight framing. |
| Cancer / Colorectal And Breast Context | Signal detected | Breast and selected female cancer awareness; Gut inflammation, diverticular tendency, and colorectal context | Cancer/polyps domain hits were present in the held-out phenotype summary. | Report surfaced breast/female cancer awareness plus colorectal/diverticular context. |
| GI / Digestive / Colorectal | Signal detected | Gut inflammation, diverticular tendency, and colorectal context; Liver-kidney chemistry context | Digestive and colon keywords appeared in the phenotype summary. | GI, diverticular, inflammatory bowel, colorectal, and liver-kidney chemistry context are visible in the report. |
| Cardiovascular / Hypertension | Signal detected | Body composition with favorable sugar and lipid balance; Blood clotting and vein circulation | Benign hypertension and hydrochlorothiazide use were present. | Report covers blood pressure as favorable counterweight and vascular/clotting context, but does not center hypertension directly. |
| Immune / Inflammatory / Arthritis Context | Signal detected | Immune signaling balance; Joint, spine, and fall resilience | Autoimmune-inflammatory domain hits and arthritis-related terms appeared. | Report surfaced broad immune signaling plus joint context relevant to inflammatory and arthritis phenotype entries. |
| Respiratory / Pneumonia | Signal detected | Airway, snoring, and sleep rhythm; Immune signaling balance | Pneumonia history appeared in the held-out phenotype. | Airway and immune context is present, but pneumonia is only adjacent rather than directly predicted. |
| Pharmacogenomics / Medication Context | Signal detected | Medication safety / PGx utility section | Chantix, Synthroid, hydrochlorothiazide, and medication-domain hits were present. | PGx findings are visible as a separate utility section, but active medication overlap is limited from the available phenotype list. |
| 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
Benign hypertension: 2013-11-205 MG Oral Tablet: 0.5 Milligram (mg)Synthroid 100 MCG Oral Tablet: 100 Micrograms (mcg)5 MG ORAL TABLET [HYDROCHLOTHIAZIDE]: 12.5 Milligram (mg)cone: 1979-07-01Hepatitis A vaccine (HepA): 2016-03-08State:: MassachusettsZip code:: 02143PGP Participant Survey: Responses submitted 7/29/2016 20:43:30.Show responsesTimestamp: 6/12/2020 17:06:18Year of birth: 1942Sex/Gender: FemaleRace/ethnicity: WhiteMaternal grandmother: Country of origin: UkrainePaternal grandmother: Country of origin: ItalyPaternal grandfather: Country of origin: ItalyMaternal grandfather: Country of origin: UkraineMonth of birth: JulyAnatomical sex at birth: FemaleMaternal grandmother: Race/ethnicity: WhiteMaternal grandfather: Race/ethnicity: WhitePaternal grandmother: Race/ethnicity: WhitePaternal grandfather: Race/ethnicity: WhitePGP Trait & Disease Survey 2012: Cancers: Responses submitted 7/29/2016 20:46:31.Show responsesHave you ever been diagnosed with one of the following conditions?: Age-related cataract, Myopia (Nearsightedness), Astigmatism, Sensorineural hearing loss or congenital deafnessPGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity: Responses submitted 7/29/2016 20:47:56.Show responsesHave you ever been diagnosed with any of the following conditions?: Osteoarthritis, Rotator cuff tear, Bone spursPGP Trait & Disease Survey 2012: Blood: Responses submitted 7/29/2016 20:48:42.Show responsesPGP Trait & Disease Survey 2012: Nervous System: Responses submitted 7/29/2016 20:49:29.Show responsesPGP Trait & Disease Survey 2012: Vision and hearing: Responses submitted 7/29/2016 21:06:06.Show responsesPGP Trait & Disease Survey 2012: Circulatory System: Responses submitted 7/29/2016 20:51:26.Show responsesPGP Trait & Disease Survey 2012: Respiratory System: Responses submitted 7/29/2016 20:51:57.Show responsesPGP Trait & Disease Survey 2012: Digestive System: Responses submitted 7/29/2016 20:52:53.Show responsesPGP Trait & Disease Survey 2012: Genitourinary Systems: Responses submitted 7/29/2016 20:54:18.Show responsesPGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue: Responses submitted 7/29/2016 20:55:09.Show responsesPGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue: Responses submitted 7/29/2016 20:56:09.Show responsesPGP Trait & Disease Survey 2012: Congenital Traits and Anomalies: Responses submitted 7/29/2016 20:57:00.Show responsesPGP Basic Phenotypes Survey 2015: Responses submitted 7/29/2016 21:10:45.Show responses1 — Blood Type: A +2 — Height: 5'0"
Frozen Review Notes
# Validation review: huDBDF82 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: eye/retina/hearing, musculoskeletal/joint, metabolic/thyroid, GI/colorectal, cancer awareness, immune context. - Notes: Pneumonia is only adjacent airway/immune context; hypertension is broad cardiovascular/metabolic context rather than a direct hypertension card; active-medication PGx overlap is limited.