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Validation Scorecard
huA5BA2A
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
949,904
Age
60
Sex
Male
Height
6 ft 3 in
Weight
245 lb
Report Timestamp
1 Jun 2026, 15:36 UTC
Phenotype Reveal
1 Jun 2026, 15:50 UTC
Pipeline Version
single-agent-v2-expanded-2026-06-01
PGP Source
https://my.pgp-hms.org/profile/huA5BA2A
Genotype SHA256
224719a6b6ed9aa37913c5efa9082fb2bfc21a82918d64010cc02f77abff08a9
Phenotype SHA256
c9acb88be5b30ebbed530faa0d0048e8d67e75a872e2b41c1b962e26945be39a
1
Report generated
1 Jun 2026, 15:36 UTC
2
Phenotype revealed
1 Jun 2026, 15:50 UTC
3
Scorecard recorded
Reviewer: Codex
What Helix Prioritised: Top 5
Cardiovascular Clotting VascularMetabolic Body GlucoseKidney Urine MineralImmune InflammatoryBrain Mood Cognitive
Secondary Domains: Top 10
Cardiovascular Clotting VascularMetabolic Body GlucoseKidney Urine MineralImmune InflammatoryBrain Mood CognitiveDigestive Gut LiverJoint Connective TissueSkin Sun ResponseEye RetinalBlood Iron
Held-Out Phenotype Domains
GIAutoimmune InflammatoryCancerCardiovascularMetabolicPharmacogenomics
Missed Known Conditions
Skin Tags SpecificityColon Polyps SpecificityActive Losartan PGx Specificity
Protein / PGx Signals
Cardiovascular MMP3 PZP LRPAP1Metabolic LRPAP1 PNLIPRP2 TREH CGA XPNPEP2Immune IFNGR2 TLR3 IL1RL1 IL1RAP CD300LF IL7RRespiratory IL1RL1 IL1RAP CCL24Digestive PNLIPRP2 TREH XPNPEP2CYP2C19CYP3A5
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 |
|---|---|---|---|---|
| Metabolic Type2 Diabetes Body Composition | Signal detected | Clinical recommendation 2: "Body composition and glucose handling". | Type 2 diabetes was reported, with height 6 ft 3 in and weight 245 lb supporting body-composition relevance. | The report directly identifies body-size, visceral-fat, waist, weight-change, glucose and insulin context, while also noting protective glucose counterweights. This matches the strongest held-out metabolic phenotype lane. |
| Cardiovascular Hypertension Lipid | Signal detected | Clinical recommendation 1: "Arterial and clotting tendency"; recommendation 2 also names blood-pressure and lipid triggers. | Hypertension, high cholesterol and losartan use were reported. | The report leads with cardiovascular prevention, artery and vessel-wall biology, clotting, heart strain, blood pressure and cholesterol context. It is broader than hypertension alone but squarely matches the held-out cardiovascular lane. |
| Respiratory Asthma Pneumonia | Signal detected | Clinical recommendation 12: "Lung and airway context"; immune recommendation also includes inflammatory-response context. | Adult asthma and pneumonia were reported. | The report captures a visible respiratory lane with airway, lung-function, lung-cancer and inflammatory protein context. It does not name asthma or pneumonia, so this is broad-domain alignment rather than a specific diagnosis hit. |
| GI Colon Polyps Digestive | Signal detected | Clinical recommendation 6: "Gut, liver, and digestive pattern". | Colon polyps and digestive-system survey material were reported. | The report identifies digestive, bowel-frequency, reflux or ulcer, liver-enzyme, inflammatory bowel and diverticular context. It covers the correct digestive lane but does not directly call out colon polyps. |
| Dermatology Skin Tags | Signal detected | Clinical recommendation 8: "Skin, hair, and sun response". | Skin tags were reported. | The report surfaces skin, sun-response, cyst, keratosis and follicle context, but it does not identify skin tags or benign skin growths. Count as weak adjacent context only. |
| Cancer Colon Polyp Screening | Signal detected | Risk Scores table includes benign neoplasm of colon and anal or rectal polyp models; digestive recommendation covers bowel-change review. | Colon polyps were reported in cancer-survey material; no confirmed cancer diagnosis was identified in the held-out summary. | The report does not create a dedicated colon-polyp or cancer-screening recommendation, but related polyp and digestive evidence is available in the technical report. Count as weak context rather than a detected main signal. |
| Pharmacogenomics Active Losartan | Signal detected | Dedicated Medication Safety section lists CYP2C19 rapid metabolizer and CYP3A5 poor metabolizer findings. | Medication rows include losartan; no direct reported drug-gene match was established from the visible PGx findings. | Medication safety is visible and useful as future prescribing context, but the active medication recorded in the held-out phenotype is not matched by a patient-specific losartan gene-drug finding. |
| Rare Monogenic Negative Control | Signal detected | Clinical Variant Status remains no confirmed pathogenic finding; variants are presented as background or confirmation-required where applicable. | No confirmed severe monogenic diagnosis was identified in the held-out phenotype summary. | Negative-control pass. The report avoids a confirmed rare-disease overcall despite rich variant context. |
Reviewer Notes
The report captures the strongest held-out phenotype lanes: type 2 diabetes and body composition, hypertension/high-cholesterol cardiovascular context, adult asthma/pneumonia respiratory context, and broad digestive/colon context. It is weaker for skin tags, colon-polyp specificity, and active losartan pharmacogenomic matching because the visible report remains adjacent rather than diagnosis- or drug-specific. Dedicated medication safety renders separately and the report avoids confirmed rare-disease overcall.
Phenotype Terms Revealed After Report Freeze
State:: FloridaZip code:: 33467PGP Participant Survey: Responses submitted 7/4/2015 15:32:34.Show responsesTimestamp: 6/12/2020 12:26:51Year of birth: 1960Sex/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: United StatesMonth 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 5/30/2017 16:34:58.Show responsesHave you ever been diagnosed with one of the following conditions?: HypertensionPGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity: Responses submitted 5/30/2017 16:33:51.Show responsesHave you ever been diagnosed with any of the following conditions?: Skin tagsPGP Trait & Disease Survey 2012: Blood: Responses submitted 5/30/2017 16:34:17.Show responsesPGP Trait & Disease Survey 2012: Nervous System: Responses submitted 5/30/2017 16:35:21.Show responsesPGP Trait & Disease Survey 2012: Vision and hearing: Responses submitted 5/30/2017 16:34:44.Show responsesPGP Trait & Disease Survey 2012: Circulatory System: Responses submitted 5/30/2017 16:35:43.Show responsesPGP Trait & Disease Survey 2012: Respiratory System: Responses submitted 5/30/2017 16:36:01.Show responsesPGP Trait & Disease Survey 2012: Digestive System: Responses submitted 5/30/2017 16:36:26.Show responsesPGP Trait & Disease Survey 2012: Genitourinary Systems: Responses submitted 5/30/2017 16:36:44.Show responsesPGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue: Responses submitted 5/30/2017 16:37:09.Show responsesPGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue: Responses submitted 5/30/2017 16:37:42.Show responsesPGP Trait & Disease Survey 2012: Congenital Traits and Anomalies: Responses submitted 5/30/2017 16:37:54.Show responsesPGP Basic Phenotypes Survey 2015: Responses submitted 5/30/2017 16:40:24.Show responses1 — Blood Type: O +2 — Height: 6'3"3 — Weight: 245gl/XQ2Voh): 2gl/XQ2Voh): 23 — Left Eye Color - Text Description: blue grey4 — Right Eye Color - Text Description: blue grey1 — What is your natural hair color currently, when without artificial color or dye?: brown
Frozen Review Notes
# huA5BA2A Validation Review Expanded v2 candidate selected from public PGP data because it has build 37 chip data, high marker coverage, and unusually dense held-out phenotype material. Public signal-detected metric: 7 / 7 phenotype-relevant scored domains. Strict direct-or-broad alignment audit: 4 / 7 phenotype-relevant scored domains, with 3 weak adjacent rows retained as detected context under the current public metric. Detected: - Type 2 diabetes and body-composition context. - Hypertension/high-cholesterol cardiovascular context. - Adult asthma/pneumonia respiratory context as a broad lung/airway lane. - Digestive/colon context as a broad gut/liver/digestive lane. Weak adjacent context: - Skin tags are only represented by broader skin/sun/follicle context. - Colon polyps are only represented by digestive and table-level polyp evidence, not a direct screening card. - Active losartan use is not matched by a direct losartan pharmacogenomic finding. Safety: - Dedicated medication safety renders separately from the main signal cards. - No confirmed rare-disease overcall was made.