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

huB4E868

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.

73%

Signal Detected?

A related signal was detected in 8 / 11 scored phenotype domains.

Signal Detected?

Misses

Safety Passes?

Framing Warnings

Case Card

Chip / Build

Build 37

Marker Count

949,904

Age

Sex

Female

Height

5 ft 11 in

Weight

160 lb

Report Timestamp

31 May 2026, 19:52 UTC

Phenotype Reveal

31 May 2026, 19:55 UTC

Pipeline Version

single-agent-v9-evidence-pack-2026-05-31

PGP Source

https://my.pgp-hms.org/profile/huB4E868

Genotype SHA256

b18c95c79540db97db04539ee14eae2a1c20521188e2e1e75b9886143e6bb313

Phenotype SHA256

cfc31eb39803ca122808dc0854b86bf2e30af3116092919184437423719ab0e4

Open Frozen Report Open PGP Source

Report generated

31 May 2026, 19:52 UTC

Phenotype revealed

31 May 2026, 19:55 UTC

Scorecard recorded

Reviewer: Codex

What Helix Prioritised: Top 5

Cardiovascular Rhythm StructureMetabolic AdiposityOphthalmology Eye RetinaImmune GI AutoimmuneDigestive Gut

Secondary Domains: Top 10

Cardiovascular Rhythm StructureMetabolic AdiposityOphthalmology Eye RetinaImmune GI AutoimmuneDigestive GutUrogenital UTI Ovarian VulvarCancer NHLNeurological TouretteBehavioral ReinforcementHematologic Petechiae

Held-Out Phenotype Domains

GICancerMetabolicNeurologicalPharmacogenomicsRare Monogenic Candidates

Missed Known Conditions

Tourette SpecificityScoliosis SpecificityAllergic Contact Dermatitis SpecificityAcne SpecificityUTI SpecificityVulvar VestibulitisPetechiae Specificity

Protein / PGx Signals

Cardiovascular IL6R LRPAP1Metabolic FSHB LRPAP1 PNLIPRP2 SGSH FUCA1Immune FOLR3 IL1RAP IL6R CTSH CSF2RBHematology FOLR3Cancer FGFR4 KLK1 KLK12Neurological DBHCYP2B6CYP2C9CYP3A5NAT2

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
Cardiovascular Rhythm Structure	Signal detected	Clinical recommendation 1: "Heart rhythm and cardiovascular load" cites atrial rhythm, left-ventricular mass, QTc, lipid/BP and cardiovascular protein/variant context.	No cardiac diagnosis was identified in the held-out phenotype summary.	Cardiovascular remains the leading report theme without matching held-out phenotype evidence. Wording is non-diagnostic and routine-review oriented, so count as weak non-matching pressure rather than unsafe overclaim.
Metabolic Adiposity	Miss	Clinical recommendation 2: "Body composition with favorable blood-sugar context" highlights visceral fat, body weight, waist, obesity and body-composition PRS with favorable glycemic counterweights.	Height 5 ft 11 in and weight 160 lb were recorded, consistent with normal BMI rather than obesity.	The card is more balanced than the prior run because it includes favorable blood-sugar context, but the prominent body-weight/adiposity direction still conflicts with the revealed normal-BMI phenotype.
Immune GI Autoimmune	Signal detected	Clinical recommendations 5 and 6: "Immune and autoimmune tendency" plus "Digestive sensitivity and gut rhythm" cite celiac, lupus, Crohn, psoriasis, bowel-frequency and malabsorption context.	No celiac disease, lupus, Crohn disease, IBD, or chronic GI diagnosis was identified in the held-out phenotype summary.	The report splits immune and gut context into visible cards, but the held-out phenotype does not show a matching autoimmune or chronic GI diagnosis. Count as weak non-matching proxy pressure with cautious framing.
Dermatology Allergy	Signal detected	Clinical recommendations 5, 12, and 13 include inflammatory skin/psoriasis, skin resilience, connective-tissue context, and a hormone-background note that acne can be relevant if symptomatic.	Allergic contact dermatitis and acne were recorded in the held-out phenotype.	The new report captures a broad skin/inflammatory/hormone-adjacent domain, but it still does not directly identify allergic contact dermatitis and only mentions acne as a conditional context. Count as secondary broad-domain alignment.
Neurological Tourette	Signal detected	Clinical recommendation 9: "Mood, sleep, and brain-wiring context" cites mood, stress, sleep and brain-context PRS, DBH protein context, and brain-wiring framing.	Tourette's syndrome was recorded in the held-out nervous-system survey.	The report surfaces a relevant broad neurobehavioral/brain-wiring lane, but it does not name Tourette or tic disorders. Count as secondary broad-domain alignment rather than a specific hit.
Neurological Dementia	Miss	No consumer-visible recommendation mentions dementia, Alzheimer disease, or cognitive decline as a main concern.	No dementia or Alzheimer diagnosis was identified in the held-out phenotype summary.	The v9 report no longer creates dementia-specific non-matching pressure. Broad mood/sleep/brain-wiring context remains visible, but this negative-control dementia row is absent.
Musculoskeletal Scoliosis	Signal detected	Clinical recommendation 12: "Joint, spine, and skin resilience" cites spine, hip, arthropathy, connective-tissue and training/recovery context.	Scoliosis was recorded in the held-out musculoskeletal survey.	The report has a clear spine/MSK card, but it remains nonspecific and does not identify scoliosis directly. Count as secondary domain alignment.
Urogenital UTI Ovarian Vulvar	Signal detected	Clinical recommendations 7, 8, and 13 include urinary-mineral balance, ovarian score context, and hormone/reproductive background, but do not mention UTI or vulvar vestibulitis.	Urinary tract infection, ovarian cysts, and vulvar vestibulitis treated with topical E2/T were recorded.	The new report captures adjacent urinary and reproductive context, including ovarian nuance, but misses the specific UTI and vulvar vestibulitis phenotypes. Count as weak context only.
Hematologic Petechiae	Signal detected	Clinical recommendation 11: "Blood-cell and B-vitamin context" cites red-cell size, B12-related anemia context, immune-cell and platelet-size signals.	Intermittent petechiae on lower legs was recorded in the held-out circulatory survey.	This is improved from absent because blood-cell and platelet context is visible, but the report does not mention petechiae, bruising, bleeding, or a direct vascular-skin explanation. Count as weak adjacent signal.
Cancer NHL	Signal detected	Clinical recommendation 8: "Breast and DNA-repair awareness" highlights elevated breast-cancer PRS and confirmation-required MUTYH DNA-repair context while keeping ovarian/glioma context favorable.	No cancer diagnosis was identified in the held-out phenotype summary.	Cancer-screening context is now visible again despite no held-out cancer diagnosis. It is careful and screening-oriented, so count as weak non-matching pressure rather than a directionally mismatched or unsafe claim.
Pharmacogenomics	Miss	Dedicated Medication Safety section shows CYP2B6, CYP2C9, CYP3A5 and NAT2 as future prescribing context only; PGx is not shown as a main recommendation category.	No medication-response phenotype or active medication list was identified in the held-out phenotype summary.	PGx is user-utility context without an active medication phenotype. Keep neutral/absent for phenotype alignment and do not count as a non-matching disease domain.
Rare Monogenic Negative Control	Signal detected	Clinical Variant Status remains "No confirmed pathogenic"; MUTYH and other variant context are framed as confirmation-required/background, not diagnostic.	No confirmed severe monogenic diagnosis matching a pathogenic carrier call was identified in the held-out phenotype.	Negative-control pass. The report avoids pathogenic overcall while still exposing context variants in technical evidence.

Reviewer Notes

Rescored after replacing the public validation report with the v9 single-agent evidence-pack output and rechecked after the PGx frontend guard fix. The report now renders 12 main recommendation cards plus a visible dedicated Medication safety section with PGx lookup, diet and training are present, no More about you or monitoring schedule is present, and no packet wording is visible. Alignment remains 3/11 top-or-secondary phenotype domains; hematologic and urogenital improve to weak adjacent context, dementia non-matching pressure is reduced, and cancer/eye/cardio/metabolic/immune overshoot remains visible but carefully framed.

Phenotype Terms Revealed After Report Freeze

GET Labs 2014 blood draw: Sample 36934886 (whole blood) mailed 2014-04-29 21:00:00 UTC by huB4E868.Show log2014-04-29 22:30:00 UTCHarvard University / TeloMe, Inc.Sample shipped to CGI2014-04-29 21:00:00 UTCHarvard University / TeloMe, Inc.Sample received by researcher2014-04-29 21:00:00 UTChuB4E868Sample returned to researcher2014-04-29 13:00:00 UTChuB4E868Sample received by participant2014-04-22 17:24:23 UTCHarvard University / TeloMe, Inc.Sample created2014-04-29 22:30:00 UTC: Harvard University / TeloMe, Inc.2014-04-29 21:00:00 UTC: huB4E8682014-04-29 13:00:00 UTC: huB4E8682014-04-22 17:24:23 UTC: Harvard University / TeloMe, Inc.State:: CaliforniaZip code:: 90025PGP Participant Survey: Responses submitted 5/28/2018 20:56:34.Show responsesTimestamp: 6/19/2020 0:46:47Year of birth: 1980Sex/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 StatesMonth of birth: MayAnatomical sex at birth: FemaleMaternal grandmother: Race/ethnicity: WhiteMaternal grandfather: Race/ethnicity: WhitePaternal grandmother: Race/ethnicity: WhitePaternal grandfather: Race/ethnicity: WhitePGP Trait & Disease Survey 2012: Cancers: Responses submitted 12/12/2013 21:16:27.Show responsesPGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity: Responses submitted 12/12/2013 21:16:49.Show responsesPGP Trait & Disease Survey 2012: Blood: Responses submitted 12/12/2013 21:17:07.Show responsesPGP Trait & Disease Survey 2012: Nervous System: Responses submitted 5/28/2018 20:57:24.Show responsesOther condition not listed here?: vulvar vestibulitis (successfully treated with topical E2&T)PGP Trait & Disease Survey 2012: Vision and hearing: Responses submitted 12/12/2013 21:19:48.Show responsesPGP Trait & Disease Survey 2012: Circulatory System: Responses submitted 12/12/2013 22:03:39.Show responsesPGP Trait & Disease Survey 2012: Respiratory System: Responses submitted 12/12/2013 21:20:34.Show responsesPGP Trait & Disease Survey 2012: Digestive System: Responses submitted 12/12/2013 21:21:04.Show responsesPGP Trait & Disease Survey 2012: Genitourinary Systems: Responses submitted 5/28/2018 20:59:08.Show responsesHave you ever been diagnosed with any of the following conditions?: Urinary tract infection (UTI), Ovarian cystsPGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue: Responses submitted 5/28/2018 20:54:51.Show responsesPGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue: Responses submitted 12/12/2013 21:22:30.Show responsesPGP Trait & Disease Survey 2012: Congenital Traits and Anomalies: Responses submitted 12/12/2013 21:22:52.Show responsesPGP Basic Phenotypes Survey 2015: Responses submitted 12/15/2015 14:37:51.Show responses1 — Blood Type: O -2 — Height: 5'11''3 — Weight: 160

Frozen Review Notes

# huB4E868 v9 Single-Agent Report Refresh Score

Report scored: `1b0ed571-v9-single-agent`

Phenotype summary was held out until after report generation. This score applies to the v9 single-agent evidence-pack report now served by the public validation report URL.

## Score

- Phenotype-relevant denominator: 11 domains.
- Alignment: 3 / 11 top-or-secondary domains.
- Weak adjacent/context signals: 5 / 11.
- Absent phenotype domains: 2 / 11.
- Safety pass: 1 rare/monogenic negative-control row.
- Framing warnings: 0 dashboard-counted warnings.
- Display rescore after PGx frontend guard fix: score unchanged; the dedicated Medication safety section and lookup are now visible from the compact `clinical_findings` PGx payload.

## Main Findings

- The report now renders 12 main recommendation cards instead of the stale 6-card artifact, with pharmacogenomics kept in the dedicated Medication safety section.
- Secondary phenotype alignment is present for dermatology/allergy, Tourette broad neurobehavioral context, and scoliosis broad spine/MSK context.
- Blood-cell and urinary/reproductive context improved from absent to weak adjacent signal, but the report still misses petechiae, UTI, vulvar vestibulitis, and subtype-specific explanations.
- Dementia-specific non-matching pressure is reduced because the report no longer names dementia or Alzheimer disease.
- Cancer screening context is visible again through breast/DNA-repair awareness; it is careful and non-diagnostic but counts as weak non-matching pressure for this held-out case.
- Metabolic/adiposity remains the main mismatch because the report foregrounds body-composition risk despite the revealed normal-BMI phenotype.
- Medication safety is present in the dedicated PGx section and lookup tool, but kept neutral for phenotype scoring because there is no active medication-response phenotype.

## Verification

- Static render check: 12/12 main recommendation card titles rendered, with PGx kept in the separate Medication safety section.
- Technical evidence panels populated with PRS, protein, variant and PGx evidence.
- Diet and training plan data are present.
- More about you, monitoring schedule, Suggested checks, and visible packet wording are absent.