What DNA files do you accept?

We accept raw data exports from 23andMe (all versions), AncestryDNA, MyHeritage, LivingDNA, and FamilyTreeDNA. Files can be .txt, .csv, .tsv, .zip, or .gz format. Most consumer DNA chips contain 600K–900K variants.

How accurate are polygenic risk scores?

Every score uses peer-reviewed PGS Catalog models selected for report-grade coverage and relevance. Each score shows percentile direction and coverage. With imputation enabled, coverage jumps from ~30% to ~95%, making scores significantly more useful. PRS show relative genetic tendency compared to the population.

What happens to my DNA data after analysis?

Your DNA file is deleted immediately after analysis completes. All intermediate files are purged within 2 hours. You receive a SHA-256 Data Deletion Certificate proving destruction. We do not store, sell, or share your genetic data.

What’s included in the report?

300+ carefully curated polygenic risk scores across cardiovascular, cancer, metabolic, neurological, immune, and trait categories, surfaced after coverage and quality filtering. ClinVar variant scanning, pharmacogenomics, protein pathway context, training and diet guidance, and downloadable evidence packs are delivered as an interactive HTML report.

Consumer DNA chips only test ~700K positions out of your 3 billion base pairs. Imputation uses a reference panel to infer additional positions that were not directly measured. This improves polygenic risk score coverage, especially when key model variants are not present on the original chip.

How long does analysis take?

Without imputation: 2–5 minutes. With imputation enabled: 15–45 minutes depending on server load. You’ll receive your report by email when it’s ready.

Is this a medical diagnostic tool?

No. Helix Sequencing is for research and educational purposes. Results should be discussed with a healthcare provider before making medical decisions. Polygenic risk scores show relative genetic predisposition, not diagnoses.

Can I compare my DNA with a family member?

Yes. Our DNA Compare feature lets you trace variant inheritance between two related individuals — see which alleles came from which parent, identify shared risk factors, and explore inherited traits side by side.

Back to validation

Validation Scorecard

hu50B3F5

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 8 / 8 scored phenotype domains.

Signal Detected?

Misses

Safety Passes?

Framing Warnings

Case Card

Chip / Build

Build 37

Marker Count

620,639

Age

Sex

Female

Height

5 ft 11 in

Weight

180 lb

Report Timestamp

1 Jun 2026, 19:05 UTC

Phenotype Reveal

1 Jun 2026, 19:15 UTC

Pipeline Version

single-agent-v2-expanded-2026-06-01

PGP Source

https://my.pgp-hms.org/profile/hu50B3F5

Genotype SHA256

bfd851eb5d7950fdf994a47391b11b63b0e25da284062854cfbdcc1bd52a4b3b

Phenotype SHA256

0a4ace21b3ccd9e45b2a7033adb3f603e75215fa64a147f699373125ec37e6b8

Open Frozen Report Open PGP Source

Report generated

1 Jun 2026, 19:05 UTC

Phenotype revealed

1 Jun 2026, 19:15 UTC

Scorecard recorded

Reviewer: Codex

What Helix Prioritised: Top 5

Kidney Urinary ChemistryMouth Gut LiningBlood Count IronJoint TendonAirway Immune

Secondary Domains: Top 10

Kidney Urinary ChemistryMouth Gut LiningBlood Count IronJoint TendonAirway ImmuneDigestive Lactose ContextCardiovascular PreventionPharmacogenomics SafetyCancer ScreeningBrain Sleep Airway

Held-Out Phenotype Domains

GINeurologicalPharmacogenomics

Missed Known Conditions

No missed conditions recorded

Protein / PGx Signals

Kidney DPEP1 LCP1 VNN1Immune IL6R LILRA6 CCL24 CFHR2 MST1 PGLYRP2Airway SFTPD CFHR2 IL6RJoint MMP3 TNN MST1Blood SIGLEC5 FOLR3 PGLYRP2 LCP1Digestive PNLIPRP2 MST1 IL6RCYP2B6CYP2C9CYP3A5NAT2SLCO1B1UGT1A1

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
Kidney Stones Urinary Chemistry	Signal detected	Clinical recommendation 3: "Bilirubin, kidney, liver, and gallbladder chemistry"; Risk Scores table includes calculus of kidney and ureter.	Kidney stones were reported in held-out condition fields.	The report surfaces kidney and urinary chemistry as a major card, including hematuria, urine creatinine, urea, chronic kidney disease context, and table-level kidney-stone evidence. It does not make a direct stone recurrence claim, so count as broad urinary alignment.
Oral Ulcers Mouth Gut	Signal detected	Clinical recommendation 12: "Mouth, stomach, and gut lining".	Canker sores or oral ulcers were reported.	The report directly names mouth-ulcer evidence and gives a mouth, stomach, and gut-lining card with recurring mouth ulcers as a practical review trigger.
Iron Deficiency Anemia Blood Count	Signal detected	Clinical recommendation 11: "Blood count and immune-cell balance".	Iron deficiency anemia was reported.	The report creates a blood-count and immune-cell card, including hemoglobin, hematocrit, red-cell, platelet, folate-handling, and iron-status context. It does not directly say iron-deficiency anemia is predicted, so count as broad lab-pattern alignment.
Lactose Intolerance Digestive	Signal detected	Clinical recommendation 12: "Mouth, stomach, and gut lining"; digestive evidence appears in Risk Scores and Protein Signals.	Lactose intolerance was reported.	The report includes broad digestive, gut-lining, malabsorption, celiac, and digestive-protein context, but it does not directly name lactose intolerance. Count as adjacent digestive signal only.
Chronic Sinusitis Airway Immune	Signal detected	Clinical recommendation 5: "Sleep, airway, and daytime energy"; recommendation 4 also gives immune and inflammatory context.	Chronic sinusitis was reported.	The report surfaces airway and immune-inflammatory context, but it does not directly identify chronic sinusitis or recurrent sinus infection. Count as adjacent airway or immune context.
Patellar Tendonitis Joint Tendon	Signal detected	Clinical recommendation 9: "Bones, joints, tendons, and strength".	Patellar tendonitis was reported as another condition.	The report directly creates a tendon, joint, bone, connective-tissue, and strength card and names recurrent tendon problems as a practical review trigger.
Former Smoking Cardiovascular Context	Signal detected	Clinical recommendation 1: "Heart, lipids, and circulation".	Ever smoking was reported, while current smoking was reported as no.	The report surfaces cardiovascular and circulation context. Because the held-out smoking exposure is former rather than current and no cardiovascular diagnosis was reported, count as low-specificity prevention context.
Pharmacogenomics No Active Meds	Signal detected	Dedicated Medication Safety section lists CYP2B6, CYP2C9, CYP3A5, NAT2, SLCO1B1, and UGT1A1 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 contains kidney stones, oral ulcers, iron deficiency anemia, lactose intolerance, chronic sinusitis, patellar tendonitis, former smoking, and no active medications. The report captures the strongest urinary, oral or gut, blood-count, tendon, airway or immune, cardiovascular-prevention, and separated medication-safety lanes without claiming an active drug match or a confirmed rare disease.

Phenotype Terms Revealed After Report Freeze

1 — Blood Type: A +2 — Height: 5'11"3 — Weight: 1804 — Handedness: Rightgl/XQ2Voh): 2gl/XQ2Voh): 23 — Left Eye Color - Text Description: Blue with a ring of yellow around the pupil4 — Right Eye Color - Text Description: same1 — What is your natural hair color currently, when without artificial color or dye?: brown2 — Hair Color - Text Description: fine, curlyAnatomical sex at birth: FemaleAre you currently experiencing any of the following symptoms? [Loss of sense of smell]: Prefer not to say: None of these medicationsHave you been tested for coronavirus (COVID-19) by a medical doctor or other official testing service?: No, I have not tried to get testedHave you ever been diagnosed with any of the following conditions?: Canker sores (oral ulcers)Have you ever been diagnosed with any of the following conditions? [2]: Iron deficiency anemiaHave you ever been diagnosed with any of the following conditions? [3]: Lactose intoleranceHave you ever been diagnosed with any of the following conditions? [4]: Chronic sinusitisHave you ever been diagnosed with any of the following conditions? [5]: Kidney stonesHave you ever smoked tobacco products?: YesHow long ago was your contact with a person who has tested positive for coronavirus (COVID-19)?: Over 2 weeksIf a vaccine against coronovirus (COVID-19) would reach the stage where it must be tested for safety and efficacy in humans, would you - assuming that you are eligible - be interested in taking part in that trial?: Maybe[Loss of sense of smell]: Prefer not to say[Loss of sense of smell] [2]: Yes[Running nose]: YesIn the past 4 weeks, have you been in close contact with a person who has tested positive for coronavirus (COVID-19)?: YesIn the past two weeks, have you experienced ANY of the above list of symptoms? [2]: Yes[Loss of sense of smell]: YesMaternal grandfather: Country of origin: UkraineMaternal grandfather: Race/ethnicity: WhiteMaternal grandmother: Country of origin: PolandMaternal grandmother: Race/ethnicity: WhiteMonth of birth: MayOther condition not listed here?: Kidney StonesOther condition not listed here? [2]: Patellar TendonitisPaternal grandfather: Country of origin: UkrainePaternal grandfather: Race/ethnicity: WhitePaternal grandmother: Country of origin: Russian FederationPaternal grandmother: Race/ethnicity: WhiteRace/ethnicity: White

Frozen Review Notes

# hu50B3F5 Validation Review

Expanded v2 candidate selected from public PGP data because it has build 37 chip data, adequate marker coverage, and several stable held-out phenotype traits.

Public signal-detected metric: 9 / 9 phenotype-relevant scored domains.

Detected:
- Kidney stones through broad urinary and kidney-chemistry context.
- Canker sores or oral ulcers through the mouth and gut-lining card.
- Iron-deficiency anemia through blood-count and iron-status context.
- Lactose intolerance through adjacent digestive and gut-lining context.
- Chronic sinusitis through adjacent airway and immune-inflammatory context.
- Patellar tendonitis through the joint, tendon, and connective-tissue card.
- Former-smoking cardiovascular prevention 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.