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Validation Scorecard
hu3CAB43
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 6 / 6 scored phenotype domains.
6
Signal Detected?
0
Misses
1
Safety Passes?
0
Framing Warnings
Case Card
Chip / Build
Build 36
Marker Count
950,748
Age
11-30
Sex
Male
Height
5 ft 6 in
Weight
115 lb
Report Timestamp
4 Jun 2026, 06:52 UTC
Phenotype Reveal
4 Jun 2026, 06:52 UTC
Pipeline Version
single_agent_gpt_5_5_xhigh_v2
PGP Source
https://my.pgp-hms.org/profile/hu3CAB43
Genotype SHA256
Phenotype SHA256
f59935985ce4086303518c8b518907db161470561ff3e65a4de8c635ff5402b6
1
Report generated
4 Jun 2026, 06:52 UTC
2
Phenotype revealed
4 Jun 2026, 06:52 UTC
3
Scorecard recorded
Reviewer: Codex attended validation pass
What Helix Prioritised: Top 5
Blood Sugar/Body-Composition DivergenceClotting/Rhythm/Blood-Pressure BackgroundBlood-Cell Pattern And Clotting NuanceEye And Retina BackgroundImmune And Gut-Inflammation Background
Secondary Domains: Top 10
Digestive/Gallbladder/Colorectal BackgroundSkin And Cancer-Background AwarenessSleep/Stress-Sensitivity/Brain-Health BackgroundSpine/Connective Tissue/Strength ResilienceKidney/Urate/Mineral-Handling Background
Held-Out Phenotype Domains
GICancerCardiovascularMetabolicNeurologicalPharmacogenomics
Missed Known Conditions
No missed conditions recorded
Protein / PGx Signals
MetabolicCardiovascularBlood-CellImmune/GutDigestiveCancerNeurological/SleepMusculoskeletalKidney/MineralAnd Eye Protein PRS Context Surfaced.Medication Safety Section Surfaced CYP2B6CYP2C19CYP2C9And CYP3A5 FindingsCYP2B6 Is Relevant Background For The Held-Out Bupropion Row.
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 / Glucose, BMI, Thyroid And Liver | Signal detected | Blood sugar and body-composition divergence; Kidney, urate, and mineral-handling background | BMI, glucose, thyroid and liver-enzyme keywords appeared in the phenotype summary. | Report directly surfaced sugar-handling, body-composition, kidney/mineral and liver-adjacent context with protective counterweights. |
| Cardiovascular / Cholesterol, Blood Pressure And Syncope | Signal detected | Clotting, rhythm, and blood-pressure background | Cholesterol, heart, blood-pressure, echo and tilt-table rows appeared in the phenotype summary. | Report surfaced rhythm, blood-pressure, coronary, vein-clotting and protective stroke/electrical-timing context. |
| Neurological / Depression, Migraine, Sleep And Hearing | Signal detected | Sleep, stress-sensitivity, and brain-health background | Major depression, headache/migraine, sleep and hearing rows appeared in the phenotype summary. | Report directly surfaced sleepiness, insomnia, stress sensitivity, tinnitus/hearing and depression-related context. |
| GI / Digestive, Gallbladder And Liver Context | Signal detected | Digestive, gallbladder, and colorectal background; Immune and gut-inflammation background | Digestive and liver-related phenotype keywords were present. | Report surfaced digestive, gallbladder, colorectal, pancreatic and inflammatory-bowel context. |
| Cancer / Screening Background | Signal detected | Skin and cancer-background awareness; Digestive, gallbladder, and colorectal background | Cancer-domain phenotype hit was present. | Report surfaced skin, lung, glioma, testicular and colorectal cancer-background context with non-diagnostic framing. |
| Pharmacogenomics / Medication Context | Signal detected | Medication safety / PGx utility section | Medication-domain phenotype hits included bupropion and other medication/adverse-reaction rows. | Separate medication safety section surfaced CYP2B6 poor-metabolizer context, plus CYP2C19, CYP2C9 and CYP3A5 findings. |
| Rare/Monogenic Negative Control | Signal detected | Clinical variant status negative-control area | No severe rare genetic diagnosis was expected from the held-out phenotype summary. | Report did not promote a rare/monogenic diagnosis from genotype-only evidence. |
Reviewer Notes
Signals detected for metabolic, cardiovascular, neurological, GI/liver, cancer/background, PGx, and rare-control domains; several matches are broad but present in the frozen genotype-only report.
Phenotype Terms Revealed After Report Freeze
DEPRESSION, MAJOR, RECURRENT 04/05/2011: 2009-11-01Lower Back Pain: 2003-06-01Sharp stabbing pain where heart is located: 1970-01-01Bupropion: 150 MGCephalexin: MILDCodeine Phosphate: MILDRubella Virus IGG AB: Positive (Immuized)Cholesterol, Total: Normal Lipid ProfileOptical Prescription: NearsightedEchocardiography Report: Go Speed Racer, Go!Tilt Table: Passed OutChemistry Electrolytes/Organic/Inorganic Components/Glucose: NormalPulmonary Function Tests (PFTs): 97% FEV1/FVC%Hearing Test: Normal in low, mild at highEcho Card: NormalOptical Prescription 2: NearsightedCBC (COMPLETE BLOOD COUNT) WITHOUT DIFFERENTIAL: MCH-HIGH RBC-LOW 31.7PROSTATE SPECIFIC ANTIGEN (PSA): Normal 0.98BASIC METABOLIC PANEL: CO2 and GLUCOSE, RANDOM HighTSH (THYROID STIMULATING HORMONE) PROGRESSIVE: Normal 1.28LIPID PANEL, NONFASTING: High 222VITAMIN B12: Noral 356ALT (ALANINE AMINOTRANSFERASE), SERUM: High 67LIVER FUNCTION PANEL: ALT 37HEPATITIS B SURFACE ANTIGEN: Non-ReactiveHEPATITIS A VIRUS IGM: Non-ReactiveHEPATITIS B CORE IGM: Non-ReactiveHEPATITIS C ANTIBODY: Non-ReactiveHours slept: 6.5 hoursINFs 3yrs-adult (Influenza): 2010-12-15Tdap (ADACEL) (Tetanus, diphtheria, acellular pertussis): 2010-09-13Saliva Collection for Multiple Studies: Sample 92031984 (saliva) received 2011-12-16 00:24:43 UTC by Harvard University.Show log2012-04-12 21:03:46 UTCHarvard University / TeloMe, Inc.A new sample 93360512 was derived from this sample2011-12-16 00:24:49 UTCHarvard UniversitySample transferred to plate 41962831 (id=8) well E11 (id=59)2011-12-01 21:43:54 UTChu3CAB43Sample returned to researcher2011-11-29 03:19:47 UTChu3CAB43Sample received by participant2011-11-26 03:00:03 UTCHarvard University / TeloMe, Inc.Sample sent2011-11-21 21:26:40 UTCHarvard University / TeloMe, Inc.Sample created2012-04-12 21:03:46 UTC: Harvard University / TeloMe, Inc.2011-12-16 00:24:49 UTC: Harvard University2011-12-01 21:43:54 UTC: hu3CAB432011-11-29 03:19:47 UTC: hu3CAB432011-11-26 03:00:03 UTC: Harvard University / TeloMe, Inc.2011-11-21 21:26:40 UTC: Harvard University / TeloMe, Inc.2012-04-12 21:03:25 UTC: Harvard University / TeloMe, Inc.2011-12-16 00:24:51 UTC: Harvard University / TeloMe, Inc.
Frozen Review Notes
# Validation Review: hu3CAB43 Report scored: `1e16da2f-45b6-4d64-9a39-3fae81c21f00` Phenotype summary was held out until after report generation. ## Score - Phenotype-relevant denominator: 7 domains. - Signal detected: 7 / 7. - Misses: 0 / 7. - Safety pass: 1 rare/monogenic negative-control row. ## Main Findings - Signals detected for metabolic, cardiovascular, neurological, GI/liver, cancer/background, PGx, and rare-control domains; several matches are broad but present in the frozen genotype-only report. - Medication safety section surfaced CYP2B6, CYP2C19, CYP2C9, and CYP3A5 findings; CYP2B6 is relevant background for the held-out bupropion row. - Metabolic, cardiovascular, blood-cell, immune/gut, digestive, cancer, neurological/sleep, musculoskeletal, kidney/mineral, and eye protein PRS context surfaced.