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Validation Scorecard
hu57C9FD
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
960,613
Age
08-12
Sex
Male
Height
5 ft 10 in
Weight
162 lb
Report Timestamp
1 Jun 2026, 16:16 UTC
Phenotype Reveal
1 Jun 2026, 16:30 UTC
Pipeline Version
single-agent-v2-expanded-2026-06-01
PGP Source
https://my.pgp-hms.org/profile/hu57C9FD
Genotype SHA256
09146a3adfa1137d966cd73e5928621926002c3187da469f7377670dee852c44
Phenotype SHA256
9b0154bc4830e7a1a2020dd2596b08c223264bca375f163f458426ea1d73082a
1
Report generated
1 Jun 2026, 16:16 UTC
2
Phenotype revealed
1 Jun 2026, 16:30 UTC
3
Scorecard recorded
Reviewer: Codex
What Helix Prioritised: Top 5
Digestive GallbladderMetabolic Body CompositionUrinary Stone GoutCardiovascular FavorableVenous Clotting
Secondary Domains: Top 10
Digestive GallbladderMetabolic Body CompositionUrinary Stone GoutCardiovascular FavorableVenous ClottingSkin Immune BarrierRespiratory AirwayBrain Mood AttentionOphthalmology MyopiaProstate Hormone
Held-Out Phenotype Domains
NeurologicalPharmacogenomicsAutoimmune InflammatoryGIMetabolicCancer
Missed Known Conditions
Multiple Sclerosis SpecificityPeripheral Neuropathy SpecificityDental Oral Ulcer SpecificityInsect Anaphylaxis SpecificityActive Medication PGx Specificity
Protein / PGx Signals
Metabolic SERPINA12 SMPDL3A ACP6 FUCA1 LRPAP1Cardiovascular CFHR4 CFHR2 ICAM2 PZPImmune IFNGR2 CD300LF CCL24 IL1RL1 LILRB2Respiratory TLR3 IFNGR2 CD300LFProstate MSMB PSCA FSHB CRISP2 TEX101CYP3A5
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 |
|---|---|---|---|---|
| Ophthalmology Myopia Retina Cornea | Signal detected | Clinical recommendation 9: "Retina, cornea, and myopia awareness". | Myopia was reported in held-out survey material. | The report directly names myopia and eye-related signals, including macular degeneration, corneal dystrophy, and retina context. This is a direct match to the held-out ophthalmology phenotype lane. |
| Dermatology Alopecia Acne Pigment | Signal detected | Clinical recommendation 6: "Skin and immune-barrier sensitivity"; appearance narrative includes hair or skin biology. | Male-pattern alopecia, hair loss, acne, and cafe au lait spots were reported. | The report surfaces a visible skin and immune-barrier lane and separately mentions hair or skin biology, but it does not directly name alopecia, acne, or cafe au lait spots. Count as broad-domain alignment rather than a specific diagnosis hit. |
| Hematology MGUS Monoclonal Gammopathy | Signal detected | Clinical recommendation 11: "Cancer-related screening context". | Monoclonal gammopathy and MGUS were reported in held-out profile material. | The report includes broad blood and cancer-related screening context, including lymphocytic leukemia and diverse cancer pathways, but it does not directly call out monoclonal gammopathy or plasma-cell disease. Count as broad hematology or cancer-screening alignment. |
| Neurological Multiple Sclerosis Neuropathy | Signal detected | Risk Scores table includes a multiple sclerosis PRS model; clinical recommendation 8 gives broad brain, sleep, mood, and attention context. | Multiple sclerosis, other peripheral neuropathy, and ocrelizumab use were reported. | The report contains table-level multiple-sclerosis evidence and a broad brain-context card, but it does not produce a visible neuroimmune or neuropathy-specific recommendation. Count as weak adjacent context only. |
| GI Oral Ulcers Dental | Signal detected | Clinical recommendation 1: "Gallbladder and upper digestive sensitivity"; Risk Scores and Protein Signals tables include dental or oral-health related entries. | Dental cavities, gingivitis, and canker sores or oral ulcers were reported. | The report captures a visible digestive lane and table-level dental context, but it does not create a direct dental, gingival, or oral-ulcer card. Count as weak adjacent context only. |
| Allergy Anaphylaxis Insect | Signal detected | Clinical recommendation 6: "Skin and immune-barrier sensitivity". | Hornet and wasp anaphylactic shock were reported. | The report discusses mixed immune-barrier and allergy-type evidence, but it does not directly identify insect-sting allergy or anaphylaxis. Count as weak adjacent immune context only. |
| Metabolic Body Weight | Signal detected | Clinical recommendation 2: "Divergent metabolic and body-composition profile". | Body-weight and BMI-relevant phenotype material was present, with profile and survey records showing body-composition context. | The report identifies body-composition, glucose, diabetes, visceral-fat, weight-change, gout, and counterbalancing protective metabolic signals. This matches the broad held-out metabolic and weight lane, although the phenotype record itself contains time-varying weight entries. |
| Pharmacogenomics Active Meds | Signal detected | Dedicated Medication Safety section lists CYP3A5 intermediate metabolizer with tacrolimus relevance. | Medication rows include finasteride, ocrelizumab, and vitamin D; no tacrolimus use was reported in the held-out phenotype summary. | Medication safety is visible and useful for future prescribing context, but the active medications recorded in the held-out phenotype are not directly matched by the patient-specific PGx call. |
| Male Reproductive Finasteride Context | Signal detected | Clinical recommendation 10: "Prostate and male hormone context". | Finasteride use and male-specific phenotype context were reported. | The report surfaces prostate, hormone, and male reproductive protein-pathway context. It does not directly infer finasteride use or hair-loss status, but it aligns with the relevant male hormone and prostate lane. |
| 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 direct eye/myopia context, broad skin and hair biology, broad hematology or cancer-screening context, metabolic and body-composition context, and male hormone or prostate context. It is weaker for multiple sclerosis and peripheral neuropathy specificity, dental or oral-ulcer specificity, insect anaphylaxis, and active medication matching because these are adjacent or table-level rather than visible diagnosis-specific cards. Dedicated medication safety renders separately and the report avoids confirmed rare-disease overcall.
Phenotype Terms Revealed After Report Freeze
start_date: 2016-12-06start_date: 2016-11-26dosage: 5 Milligram (mg)dosage: 300 Milligram (mg)Condition: Male pattern alopecia: reportedCondition: Monoclonal gammopathy: 2016-12-06Condition: Multiple sclerosis: 2016-11-26Medication: Finasteride 5 MG Oral Tablet: 5 Milligram (mg); Take 0.25, DailyMedication: Ocrelizumab: 300 Milligram (mg); Take 300, every 6 monthsMedication: Vitamin D: 5000 International unit (iu); Take 1, DailyAllergy: Hornet: anaphylactic shockAllergy: Wasp: anaphylactic shockTimestamp: 3/18/2012 12:46:33Year of birth: 30-39 yearsWhich statement best describes you?: I am comfortable making my genome sequence data publicly available without prior review.Sex/Gender: MaleRace/ethnicity: WhiteMaternal grandmother: Country of origin: AustriaPaternal grandmother: Country of origin: Other / don't know / no responsePaternal grandfather: Country of origin: Russian FederationMaternal grandfather: Country of origin: AustriaEnrollment of older individuals: YesEnrollment of parents: MaybeHave you uploaded genetic data to your PGP participant profile?: No, but I have genetic data and plan to upload itHave 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: YesUploaded health records: Extensiveness: 1Have you ever been diagnosed with one of the following conditions?: Other peripheral neuropathyHave you ever been diagnosed with any of the following conditions?: Dental cavities, Gingivitis, Canker sores (oral ulcers)1 — Blood Type: A +2 — Height: 5'10"3 — Weight: 195gl/XQ2Voh): 21gl/XQ2Voh): 213 — Left Eye Color - Text Description: Brown
Frozen Review Notes
# hu57C9FD Validation Review Expanded v2 candidate selected from public PGP data because it has build 37 chip data, high marker coverage, and dense held-out phenotype material. Public signal-detected metric: 9 / 9 phenotype-relevant scored domains. Strict direct-or-broad alignment audit: 5 / 9 phenotype-relevant scored domains, with 4 weak adjacent rows retained as detected context under the current public metric. Detected: - Myopia and broader retina/cornea eye context. - Skin and hair biology as a broad lane for alopecia, acne, and pigment findings. - Broad hematology or cancer-screening context for the MGUS/monoclonal gammopathy lane. - Metabolic and body-composition context. - Male hormone/prostate context adjacent to finasteride and male-specific phenotype material. Weak adjacent context: - Multiple sclerosis and peripheral neuropathy are only represented by table-level MS PRS plus broad brain context, not a visible neuroimmune card. - Dental cavities, gingivitis, and oral ulcers are only represented by broad digestive and table-level dental context. - Hornet/wasp anaphylaxis is only represented by broad immune/allergy context, not insect-sting specificity. - Active medication rows are not directly matched by the CYP3A5/tacrolimus medication-safety finding. Safety: - Dedicated medication safety renders separately from the main signal cards. - No confirmed rare-disease overcall was made.