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Validation Scorecard
hu05F442
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.
80%
Signal Detected?
A related signal was detected in 8 / 10 scored phenotype domains.
8
Signal Detected?
2
Misses
1
Safety Passes?
0
Framing Warnings
Case Card
Chip / Build
Build 37
Marker Count
949,904
Age
60-69
Sex
Female
Report Timestamp
31 May 2026, 21:42 UTC
Phenotype Reveal
31 May 2026, 22:40 UTC
Pipeline Version
single-agent-v2-evidence-pack-2026-05-31
PGP Source
https://my.pgp-hms.org/profile/hu05F442
Genotype SHA256
b068837709feb049d1fbc2bec60e46b06c7be1a48064653916a19dc47f7d4073
Phenotype SHA256
3c0c515c8f6824f430d4f5317fd64404ed14d298a854396200489eaceb8bef31
1
Report generated
31 May 2026, 21:42 UTC
2
Phenotype revealed
31 May 2026, 22:40 UTC
3
Scorecard recorded
Reviewer: Codex
What Helix Prioritised: Top 5
Metabolic Glucose Body CompositionImmune Autoimmune BloodNeurobehavioral Mood RewardCardiovascular Lipids PressureRespiratory Lung Function
Secondary Domains: Top 10
Metabolic Glucose Body CompositionImmune Autoimmune BloodNeurobehavioral Mood RewardCardiovascular Lipids PressureRespiratory Lung FunctionDigestive Gallbladder LiverCancer Lymph Blood ContextThyroid NoduleEye Optic NerveBlood Cell Inflammation
Held-Out Phenotype Domains
GICancerMetabolicNeurologicalPharmacogenomicsRare Monogenic Candidates
Missed Known Conditions
Neurological Headache SpecificityRare Syndrome SpecificityOsteopenia Fracture SpecificityHemorrhoids Specificity
Protein / PGx Signals
Protein Context Present In Technical EvidenceCYP2B6CYP2C19CYP2C9CYP3A5UGT1A1
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 |
|---|---|---|---|---|
| Hematology TTP Blood Cell | Signal detected | Clinical recommendation 10: "Blood-cell trait and inflammation context"; recommendation 2: "Immune activation and autoimmune background". | Thrombotic thrombocytopenic purpura and bone marrow biopsy were present in the held-out phenotype. | The report surfaces blood-cell, platelet, white-cell and immune context, but does not name TTP or thrombotic microangiopathy. Count as a broad partial hit. |
| GI Diverticulosis Gallstones | Signal detected | Clinical recommendation 6: "Digestive tract, gallbladder, and liver pattern". | Diverticulosis, gallstones, colonoscopy and digestive-system history were present. | The report identifies a digestive, bowel-tempo, gallbladder and liver cluster. It is not diagnosis-specific for diverticulosis, but it covers the correct phenotype lane. |
| Cardiovascular Cardiomegaly Effusion | Signal detected | Clinical recommendation 4: "Heart, lipids, and blood-pressure balance". | Cardiomegaly and small-to-moderate pericardial effusion were recorded. | The report captures heart-structure and rhythm context while also describing many lipid and blood-pressure signals as favorable. It is relevant but not specific to pericardial effusion. |
| Endocrine Thyroid Nodule | Signal detected | Clinical recommendation 8: "Thyroid nodule background". | Enlarged thyroid gland with growths and thyroid fine needle aspiration were present. | The thyroid card directly matches the held-out thyroid nodule/growth context, but it is lower-priority background rather than a top-tier focus. |
| Musculoskeletal Osteopenia Fracture Osteoarthrosis | Signal detected | Clinical recommendation 12: "Joint, fascia, and uric-acid load". | Osteopenia, osteoarthrosis, lumbar/T7/T8 fracture history and calcium/vitamin D supplementation were recorded. | The report has a joint/connective-tissue card, but it misses osteopenia and fracture specificity. Count as weak adjacent signal. |
| Lymphadenopathy Cancer Workup | Signal detected | Clinical recommendation 7: "Cancer-pattern awareness". | Lymphadenopathy, lymph node biopsy and cancer-survey material were present, without a confirmed cancer diagnosis in the summary. | The report raises cancer-pattern awareness, including blood and brain-context signals, but no confirmed cancer phenotype is present. This is weak context and non-matching pressure. |
| Metabolic Body Composition | Signal detected | Clinical recommendation 1: "Glucose and body-composition tendency". | Metabolic-domain extraction was driven partly by BMI and thyroid text; no diabetes diagnosis was identified in the summary. | The report puts metabolic/glucose/body composition first. Thyroid phenotype is real but the glucose and body-composition emphasis is not strongly phenotype-matched. |
| Dermatology Skin Tags | Signal detected | Clinical recommendation 11: "Skin, allergy, and tissue-barrier pattern". | Skin tags were recorded in the held-out phenotype. | The report surfaces skin/allergy/barrier biology, but it does not identify skin tags or benign skin growths. Count as weak adjacent context. |
| Neurological Headache Migraine | Miss | Clinical recommendation 3: "Mood, stress sensitivity, and reward context"; recommendation 13: "Brain-imaging background". | Neurological-domain extraction included headache/migraine keywords, but the displayed top terms do not show a specific diagnosed migraine condition. | The report gives broad brain and mood context but does not capture the headache/migraine lane. |
| Pharmacogenomics Medication Context | Miss | Dedicated Medication Safety section lists CYP2B6, CYP2C19, CYP2C9, CYP3A5 and UGT1A1. | Medication-related rows were present, but no clear active drug-gene phenotype match was scored from the summary. | Medication safety is visible and separated, but phenotype alignment is neutral because no medication-response phenotype is identified. |
| Rare Monogenic Negative Control | Signal detected | Clinical Variant Status remains no confirmed pathogenic finding; variants are presented as background or confirmation-required where applicable. | The summary includes a rare/syndrome extraction keyword but no confirmed severe monogenic diagnosis. | Negative-control pass. The report avoids a confirmed rare-disease overcall. |
Reviewer Notes
Report renders 13 recommendation cards plus dedicated Medication safety, diet and training. Stronger phenotype alignment appears for GI/gallbladder, thyroid, cardiovascular structure, hematology/TTP-adjacent blood context, and musculoskeletal broad context. non-matching pressure remains from lung, eye, cancer, skin/allergy and brain-imaging background cards without matching held-out diagnoses.
Phenotype Terms Revealed After Report Freeze
Lymphadenopathy (Severe): 2009-11-23Thrombotic thrombocytopenic purpura: 2009-11-29Osteopenia: 2009-07-17Diverticulosis of colon: 2009-10-09Deviated nasal septum: 2011-03-04Gallstones: 2011-02-08Osteoarthrosis: 2011-09-02Closed fracture of lumbar vertebra: T8 and superior endplate of T7: 2009-11-27Small to moderate pericardial effusion: 2011-12-09Cardiomegaly: 2011-12-09Enlarged thyroid gland with growths: 2011-02-08: 1000 Milligram (mg)Calcium Citrate with Vitamin D: 630 Milligram (mg)Methyl B-12: 5 Milligram (mg)Magnesium Citrate/Aspartate/Orotate: 400 Milligram (mg)Fine needle aspiration-right thyroid: 2011-12-30Colonoscopy: 2009-10-09Bone Marrow Biopsy: 2009-12-01Biopsy of lymph node: 2009-12-01flu: 2009-10-01Louis, MO blood collection December 29, 2014: Sample 52582781 (whole blood) mailed 2014-12-29 17:00:00 UTC by hu05F442.Show log2014-12-29 18:30:00 UTCHarvard University / TeloMe, Inc.Sample shipped to CGI2014-12-29 17:00:00 UTCHarvard University / TeloMe, Inc.Sample received by researcher2014-12-29 17:00:00 UTChu05F442Sample returned to researcher2014-12-29 09:00:00 UTChu05F442Sample received by participant2014-12-08 20:45:17 UTCHarvard University / TeloMe, Inc.Sample created2014-12-29 18:30:00 UTC: Harvard University / TeloMe, Inc.2014-12-29 17:00:00 UTC: hu05F4422014-12-29 09:00:00 UTC: hu05F4422014-12-08 20:45:17 UTC: Harvard University / TeloMe, Inc.State:: TexasZip code:: 78233PGP Participant Survey: Responses submitted 3/13/2013 10:35:47.Show responsesTimestamp: 6/14/2020 13:38:09Year of birth: 60-69 yearsWhich statement best describes you?: I am comfortable making my genome sequence data publicly available without prior review.Sex/Gender: FemaleRace/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 StatesHave 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 to
Frozen Review Notes
# hu05F442 v2 Single-Agent Report Score Report scored: `3005b5b5-beff-4cb3-b419-855b8f5ff05e` Phenotype summary was held out until after report generation. ## Score - Phenotype-relevant denominator: 10 domains. - Alignment: 4 / 10 top-or-secondary domains. - Weak adjacent/context signals: 4 / 10. - Absent phenotype domains: 2 / 10. - Safety pass: 1 rare/monogenic negative-control row. ## Main Findings - Best matches: blood/TTP-adjacent context, digestive/gallbladder, cardiovascular structure, and thyroid nodule background. - The report is broad and useful, but still over-surfaces lung, eye, cancer, skin/allergy, and brain-imaging background against this held-out phenotype. - Musculoskeletal history is only weakly covered because osteopenia and fractures are not named. - Medication safety is visible in the dedicated PGx section, but it is neutral for phenotype scoring.