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

huF7A4DE

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.

64%

Signal Detected?

A related signal was detected in 7 / 11 scored phenotype domains.

Signal Detected?

Misses

Safety Passes?

Framing Warnings

Case Card

Chip / Build

Build 37

Marker Count

620,634

Age

Sex

Female

Height

5 ft 7 in

Weight

138 lb

Report Timestamp

31 May 2026, 22:28 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/huF7A4DE

Genotype SHA256

b7b58b8fb756496d920f296561b94316fcbccb50c8b7a3404dba180c428baf25

Phenotype SHA256

d6f0b1dcfae79be339969956c0410474f2f05f0f5a2af82d369d1040ace75405

Open Frozen Report Open PGP Source

Report generated

31 May 2026, 22:28 UTC

Phenotype revealed

31 May 2026, 22:40 UTC

Scorecard recorded

Reviewer: Codex

What Helix Prioritised: Top 5

Eye Optic NerveDigestive Gut InflammationEndometriosis PelvicMetabolic DivergentClotting Swelling

Secondary Domains: Top 10

Eye Optic NerveDigestive Gut InflammationEndometriosis PelvicMetabolic DivergentClotting SwellingImmune AllergyKidney HydrationHeart CholesterolLiver BileThyroid Growth

Held-Out Phenotype Domains

GIAutoimmune InflammatoryCancerMetabolicNeurologicalPharmacogenomics

Missed Known Conditions

Peripheral Neuropathy SpecificityDental Cavity SpecificityPsoriasis SpecificityCOVID Symptom Specificity

Protein / PGx Signals

Protein Context Present In Technical EvidenceCYP2C9CYP3A5SLCO1B1

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 Left Eye Sensitivity	Signal detected	Clinical recommendation 1: "Eye pressure and optic-nerve context".	Left eye sensitivity to light and wind was reported in the eye-color comments.	The report puts eye context first. It does not match the exact symptom, but it captures the correct body-system lane.
Neurological Peripheral Neuropathy	Miss	Clinical recommendation 11: "Brain wiring and stress-response background".	Other peripheral neuropathy and idiopathic peripheral neuropathy were recorded.	The report gives brain/stress research context but does not capture peripheral neuropathy.
Dental Cavities	Miss	No main recommendation presents dental or oral-health context.	Dental cavities were recorded in the held-out phenotype.	The report misses a simple held-out dental phenotype.
Psoriasis Skin Inflammation	Signal detected	Clinical recommendation 6: "Immune balance and allergy contrast".	Psoriasis was identified by the phenotype-domain extraction, and skin survey rows were present.	The report surfaces immune and inflammatory context, but does not name psoriasis directly in the visible summary.
GI Digestive Context	Signal detected	Clinical recommendation 2: "Digestive sensitivity and gut inflammation".	Only weak digestive-domain extraction was present; no clear chronic GI diagnosis was identified in the summary.	The report gives digestive/gut inflammation high salience without matching held-out chronic GI evidence. Count as weak non-matching pressure.
Endometriosis Pelvic Pain	Signal detected	Clinical recommendation 3: "Endometriosis and pelvic pain context".	No endometriosis, pelvic pain, menstrual, or fertility phenotype was identified in the held-out summary.	The report elevates a female-specific endometriosis card without phenotype support. Framing is conditional, so count as weak non-matching pressure.
Metabolic Body Size	Miss	Clinical recommendation 4: "Divergent metabolic pattern".	Height 5 ft 7 in and weight 138 lb were recorded, not supporting overweight or diabetes phenotype.	The report says diabetes and body-size signals are higher despite normal body-size context. It includes favorable counterweights, but still conflicts with the phenotype.
Clotting Kidney Liver Thyroid Background	Signal detected	Clinical recommendations 5, 7, 9 and 10 cover clotting, kidney, liver/bile and thyroid/growth background.	No clotting, kidney-stone, liver/bile, thyroid or growth-signal diagnosis was identified in the held-out summary.	Multiple background categories are visible without phenotype support. They are cautious, so score as weak non-matching pressure.
Heart Cholesterol Context	Signal detected	Clinical recommendation 8: "Heart and cholesterol pattern".	No heart or cholesterol phenotype was identified in the held-out summary.	The report presents heart/cholesterol as mostly favorable context without phenotype support. It is low-risk but still a non-matching domain.
Cancer Screening Context	Signal detected	Clinical recommendation 13: "Cancer screening context".	No cancer diagnosis was identified in the held-out summary.	The report raises cancer screening context without matching phenotype evidence. Framing is routine-screening oriented, so count as weak non-matching pressure.
Pharmacogenomics No Active Meds	Miss	Dedicated Medication Safety section lists CYP2C9, CYP3A5 and SLCO1B1.	COVID survey medication row said none of these medications; no active medication-response phenotype was identified.	Medication safety is visible, but phenotype alignment is neutral because no active medication-response context is present.
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 matching a pathogenic carrier call was identified.	Negative-control pass. The report avoids a confirmed rare-disease overcall.

Reviewer Notes

Report renders 13 cards plus dedicated Medication safety, diet and training. It partially captures left-eye context and weakly captures psoriasis/immune context. It misses idiopathic peripheral neuropathy and dental cavities, and it overshoots endometriosis, metabolic, clotting, kidney, liver, thyroid, foot and cancer context against this phenotype.

Phenotype Terms Revealed After Report Freeze

State:: MissouriZip code:: 63111PGP Participant Survey: Responses submitted 1/30/2018 23:34:06.Show responsesTimestamp: 5/27/2020 22:08:30Year of birth: 1979Sex/Gender: FemaleRace/ethnicity: WhiteMaternal grandmother: Country of origin: United StatesPaternal grandmother: Country of origin: United StatesPaternal grandfather: Country of origin: GermanyMaternal grandfather: Country of origin: IrelandMonth of birth: DecemberAnatomical sex at birth: FemaleMaternal grandmother: Race/ethnicity: WhiteMaternal grandfather: Race/ethnicity: WhitePaternal grandmother: Race/ethnicity: WhitePaternal grandfather: Race/ethnicity: WhitePGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue: Responses submitted 1/30/2018 23:44:54.Show responsesHave you ever been diagnosed with any of the following conditions?: Dental cavitiesPGP Trait & Disease Survey 2012: Nervous System: Responses submitted 1/30/2018 23:46:35.Show responsesHave you ever been diagnosed with one of the following conditions?: Other peripheral neuropathyOther condition not listed here?: idiopathic peripheral neuropathy on 8/2017PGP Trait & Disease Survey 2012: Vision and hearing: Responses submitted 1/30/2018 23:47:04.Show responsesPGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity: Responses submitted 1/30/2018 23:47:26.Show responsesPGP Trait & Disease Survey 2012: Cancers: Responses submitted 1/30/2018 23:48:01.Show responsesPGP Trait & Disease Survey 2012: Circulatory System: Responses submitted 1/30/2018 23:48:31.Show responsesPGP Basic Phenotypes Survey 2015: Responses submitted 1/30/2018 23:57:58.Show responses1 — Blood Type: Don't know2 — Height: 5'7"3 — Weight: 138gl/XQ2Voh): 4gl/XQ2Voh): 43 — Left Eye Color - Text Description: Shades of blue4 — Right Eye Color - Text Description: Shades of blue5 —Comments: Dark blue ring getting lighter towards the pupil. Symmetrical but my left eye has always been more sensitive to light and wind, and I squint more with it.1 — What is your natural hair color currently, when without artificial color or dye?: blonde2 — Hair Color - Text Description: Shades of gold3 — Comments: It used to be white-gold, but the under hair near my neck has darkened to a dark gold, while the hair coming from the top of my head is still very light blonde and yellow. It gets lighter when exposed to sunlight for very long!4 — Handedness: RightPGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue: Responses submitted 1/30/2018 23:58:37.Show responses

Frozen Review Notes

# huF7A4DE v2 Single-Agent Report Score

Report scored: `b7ad1c6d-dced-48e4-b170-bf05452a6000`

Phenotype summary was held out until after report generation.

## Score

- Phenotype-relevant denominator: 11 domains.
- Alignment: 1 / 11 top-or-secondary domains.
- Weak adjacent/context signals: 7 / 11.
- Absent phenotype domains: 2 / 11.
- Safety pass: 1 rare/monogenic negative-control row.

## Main Findings

- Partial hit: the eye card broadly matches reported left-eye sensitivity.
- Weak signal: immune/skin context partly overlaps psoriasis-domain extraction.
- Main misses: idiopathic peripheral neuropathy and dental cavities.
- The report overshoots endometriosis, digestive inflammation, clotting, kidney, liver, thyroid, heart, foot/training and cancer screening context.
- The metabolic card conflicts with normal height/weight context.