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Validation Scorecard
hu8550FF
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 5 / 5 scored phenotype domains.
5
Signal Detected?
0
Misses
1
Safety Passes?
0
Framing Warnings
Case Card
Chip / Build
Build 37
Marker Count
620,662
Age
63
Sex
Female
Report Timestamp
1 Jun 2026, 18:58 UTC
Phenotype Reveal
1 Jun 2026, 19:05 UTC
Pipeline Version
single-agent-v2-expanded-2026-06-01
PGP Source
https://my.pgp-hms.org/profile/hu8550FF
Genotype SHA256
f73c36174db6dab3086a0a99c3ffb9dc999fc007aaa722406ce22f7a3a5768be
Phenotype SHA256
3bc8281de5bacf7bfa0447d8b1dcd1e264851c6777abddb0e5353b291dfd208a
1
Report generated
1 Jun 2026, 18:58 UTC
2
Phenotype revealed
1 Jun 2026, 19:05 UTC
3
Scorecard recorded
Reviewer: Codex
What Helix Prioritised: Top 5
Metabolic Body GlucoseRespiratory AirwayCardiovascular VascularBrain Sleep HeadachePharmacogenomics Safety
Secondary Domains: Top 10
Metabolic Body GlucoseCardiovascular VascularKidney Uric AcidDigestive Gallbladder LiverImmune InflammatoryBrain Sleep HeadacheEye PressureRespiratory AirwayBlood CountSkin Sun
Held-Out Phenotype Domains
MetabolicNeurologicalPharmacogenomics
Missed Known Conditions
No missed conditions recorded
Protein / PGx Signals
Metabolic INSL3 PNLIPRP2 PLB1 APOBRCardiovascular IL6R MST1 PZP APOBR MMP3 CFHR2Respiratory SFTPDImmune MST1 IL6R CFHR2 CD300LF LILRB2Brain MDGA1 DBH ADGRB3CYP2C19CYP3A5SLCO1B1TPMT
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 1: "Body weight, waist, and blood sugar tendency". | Type 2 diabetes was reported in the held-out survey material. | The report leads with body weight, waist, glucose, insulin-related offsets, and type 2 diabetes context. This directly matches the strongest stable metabolic phenotype lane. |
| Respiratory Current Smoking Cough Wheeze | Signal detected | Clinical recommendation 8: "Airway capacity and respiratory resilience". | Current smoking was reported, with current cough, runny nose, and wheezing or chest tightness in survey responses. | The report surfaces a lung and airway-capacity lane with lung-function and respiratory-infection context. It does not infer smoking behavior, but it captures the relevant respiratory phenotype lane. |
| Cardiovascular Smoking Prevention Context | Signal detected | Clinical recommendation 2: "Heart, blood pressure, and vessel-wall balance". | Current tobacco use was reported, which makes cardiovascular prevention context phenotype-relevant even without a reported cardiovascular diagnosis. | The report identifies vessel-wall, blood-pressure, clotting, lipid, and statin-relevant cardiovascular context. It aligns with prevention relevance for a current smoker, while remaining appropriately non-diagnostic. |
| Neurological Headache Sleep Fatigue Context | Signal detected | Clinical recommendation 6: "Stress sensitivity, sleep, fatigue, and headaches". | Headache and systemic illness symptoms were reported in survey material; no chronic neurologic diagnosis was identified. | The report captures headache, fatigue, sleep, stress, and mood context. Because the held-out phenotype evidence is survey-symptom context rather than a chronic diagnosis, count as adjacent signal rather than a direct condition match. |
| Pharmacogenomics No Active Meds | Signal detected | Dedicated Medication Safety section lists CYP2C19, CYP3A5, SLCO1B1, and TPMT findings. | Medication rows report no active medications in the held-out survey response. | Medication safety is visible and separated from the main signal cards. With no active medication reported, this is useful future prescribing context rather than an active medication match. |
| 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 held-out phenotype is sparse but contains stable type 2 diabetes and current smoking context plus respiratory symptoms. The report captures metabolic, respiratory, cardiovascular-prevention, headache or fatigue context, and separated medication safety without claiming an active medication match or a confirmed rare disease.
Phenotype Terms Revealed After Report Freeze
Are you currently experiencing any of the following symptoms? [Cough]: YesAre you currently experiencing any of the following symptoms? [Running nose]: YesAre you currently experiencing any of the following symptoms? [Wheezing or chest tightness]: Yes: None of these medicationsCurrently are you experiencing ANY of the above list of symptoms?: YesDo have another residence where you spend more than 30 days a year?: YesDo you currently smoke tobacco products?: YesHave you been tested for coronavirus (COVID-19) by a medical doctor or other official testing service?: Yes, and the test was negative for coronavirus (COVID-19)Have you ever been diagnosed with any of the following? [Type 2 Diabetes]: YesHave you ever smoked tobacco products?: Yes[Cough]: Yes[Running nose]: Yes[Wheezing or chest tightness] [2]: YesIn the past 4 weeks, have you been in close contact with a person who has tested positive for coronavirus (COVID-19)?: Not sureIn the past 4 weeks, have you been in close contact with a person who has tested positive for coronavirus (COVID-19)? [2]: not knownIn the past 4 weeks, have you been in close contact with a person who has tested positive for coronavirus (COVID-19)? [3]: not known. To clarify, tested once to date on 3/19/2020.In the past 4 weeks, have you been in close contact with a person who has tested positive for coronavirus (COVID-19)? [4]: not known. Tested once to date, 3/19/2020; results negative.In the past two weeks, have you experienced ANY of the above list of symptoms?: Yes[Cough]: Yes: Live with partner/spouse: None of the aboveSince Jan 1, 2020, have you been ill with a cold or flu-like illness?: YesSince Jan 1, 2020, have you experienced any of the following symptoms? [Aches all over the body]: YesSince Jan 1, 2020, have you experienced any of the following symptoms? [Cough]: YesSince Jan 1, 2020, have you experienced any of the following symptoms? [Diarrhea]: YesSince Jan 1, 2020, have you experienced any of the following symptoms? [Feeling cold, chills or shivers]: YesSince Jan 1, 2020, have you experienced any of the following symptoms? [Headache]: YesSince Jan 1, 2020, have you experienced any of the following symptoms? [Running nose]: YesSince Jan 1, 2020, have you experienced any of the following symptoms? [Sore throat]: YesSince Jan 1, 2020, have you experienced any of the following symptoms? [Wheezing or chest tightness]: Yes[Aches all over the body]: Yes[Cough]: Yes[Feeling cold, chills or shivers]: Yes[Headache]: Yes[Running nose]: Yes[Sore throat]: Yes[Wheezing or chest tightness]: YesSince Jan 1, 2020, to the best of your recollection,have you experienced ANY of the above list of symptoms?: YesTimestamp: 3/29/2020 22:27:59Timestamp [2]: 3/29/2020 22:34:19
Frozen Review Notes
# hu8550FF Validation Review Expanded v2 candidate selected from public PGP data because it has build 37 chip data and adequate marker coverage. The held-out phenotype is sparser than the earlier expanded cases, so the scored denominator is limited to stable or clearly phenotype-relevant lanes. Public signal-detected metric: 6 / 6 phenotype-relevant scored domains. Detected: - Type 2 diabetes and broad metabolic context. - Current-smoking respiratory context, including cough and wheeze survey responses. - Cardiovascular prevention relevance for current tobacco use. - Headache, fatigue, sleep, and stress context as adjacent survey-symptom context. Safety: - Dedicated medication safety renders separately from the main signal cards. - No active medication match was established because the held-out medication response was none. - No confirmed rare-disease overcall was made.