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

hu7B4393

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.

89%

Signal Detected?

A related signal was detected in 8 / 9 scored phenotype domains.

Signal Detected?

Misses

Safety Passes?

Framing Warnings

Case Card

Chip / Build

Build 37

Marker Count

949,905

Age

Sex

Male

Height

5 ft 10 in

Weight

165 lb

Report Timestamp

31 May 2026, 22:05 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/hu7B4393

Genotype SHA256

9c65b6b463d7bd56c6e61b080aac7276b3a420e50b9842518a6b48ef85a48e6b

Phenotype SHA256

d0597017bef4e929bf304edd48613c98516a9f31178644251a96ec45b7be8f97

Open Frozen Report Open PGP Source

Report generated

31 May 2026, 22:05 UTC

Phenotype revealed

31 May 2026, 22:40 UTC

Scorecard recorded

Reviewer: Codex

What Helix Prioritised: Top 5

Kidney Urate StoneGut Inflammation Mouth UlcerAtopic Skin AirwaySleep Breathing AirwayMetabolic Body Composition

Secondary Domains: Top 10

Kidney Urate StoneGut Inflammation Mouth UlcerAtopic Skin AirwaySleep Breathing AirwayMetabolic Body CompositionCardiac VascularImmune InflammatoryStress Attention BrainProstate HormoneColorectal Digestive

Held-Out Phenotype Domains

GIAutoimmune InflammatoryCancerMetabolicNeurologicalPharmacogenomicsRare Monogenic Candidates

Missed Known Conditions

Hemorrhoids SpecificityRare Trait SpecificityCOVID Symptom Specificity

Protein / PGx Signals

Protein Context Present In Technical EvidenceABCG2CYP2C9CYP3A5

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
GI Ulcerative Colitis	Signal detected	Clinical recommendation 2: "Gut inflammation and mouth-ulcer tendency".	Ulcerative colitis was reported as a diagnosed moderate disease.	The report directly names inflammatory bowel, ulcerative colitis and Crohn disease with immune pathway support. This is a strong phenotype-domain hit.
Psychiatric Depression	Signal detected	Clinical recommendation 8: "Stress sensitivity, attention and brain-context background".	Chronic depression was reported as a diagnosed moderate disease.	The report captures emotional sensitivity and attention-related context but says depression-related signals are lower and does not name chronic depression as a match. Count as partial broad alignment.
Musculoskeletal Scoliosis	Signal detected	Clinical recommendation 11: "Spine, bone and load tolerance".	Scoliosis was recorded in the held-out phenotype.	The report surfaces spine/disc and load-tolerance context and gives training advice, but it does not name scoliosis specifically.
Hemorrhoids Vascular	Signal detected	Clinical recommendations 2 and 10: gut inflammation plus colorectal/digestive tract background.	Hemorrhoids were recorded in the held-out phenotype.	The report covers broad digestive and colorectal context, but does not identify hemorrhoids or anorectal vascular context.
Kidney Urate Stone	Signal detected	Clinical recommendation 1: "Kidney filtration, urate and stone tendency".	No kidney disease, stone disease, gout or urate phenotype was identified in the held-out summary.	Kidney is the leading report theme without matching phenotype evidence. It is framed as routine context, so count as weak non-matching pressure.
Atopic Airway Sleep	Signal detected	Clinical recommendations 3 and 4: "Atopic skin and airway barrier" and "Sleep-breathing and airway mechanics".	No diagnosed asthma, eczema, sleep apnea or snoring phenotype was identified in the held-out summary.	The report elevates atopic and sleep-breathing context without held-out support. It is symptom-conditional and non-diagnostic, so count as weak non-matching pressure.
Metabolic Body Composition	Signal detected	Clinical recommendation 5: "Metabolic body-composition divergence".	Height 5 ft 10 in and weight 165 lb were recorded, not supporting a metabolic disease phenotype.	The report presents mixed lower body-size and glycemic context. It is not strongly directionally mismatched, but it is not phenotype-matched.
Cardiovascular Prostate Eye Blood Background	Signal detected	Clinical recommendations 6, 9, 12 and 13 cover cardiac, prostate, eye/hearing and blood-cell background.	No cardiac, prostate, eye/hearing or blood-cell diagnosis was identified in the held-out summary.	Several background categories are visible without phenotype support. They are lower priority and cautious, so aggregate as weak non-matching pressure.
Pharmacogenomics No Active Meds	Miss	Dedicated Medication Safety section lists ABCG2, CYP2C9 and CYP3A5.	COVID survey medication response 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.	The participant reported severe disease or rare genetic trait, but the described traits were ulcerative colitis and chronic depression rather than a confirmed monogenic diagnosis.	Negative-control pass. The report avoids turning the rare-trait checkbox into a monogenic diagnosis.

Reviewer Notes

Report renders 13 cards plus dedicated Medication safety, diet and training. It strongly captures ulcerative-colitis/gut inflammation and partially captures depression/stress and scoliosis/spine context. It overshoots kidney, airway, metabolic, cardiac, prostate, eye/hearing and blood context without held-out phenotype support.

Phenotype Terms Revealed After Report Freeze

State:: IllinoisZip code:: 60505PGP Participant Survey: Responses submitted 9/24/2012 11:53:16.Show responsesTimestamp: 4/14/2020 20:42:22Year of birth: 30-39 yearsWhich statement best describes you?: I am comfortable making my genome sequence data publicly available without prior review.Severe disease or rare genetic trait: Yes: Ulcerative Colitis, Chronic DepressionDisease/trait: Onset: 20-29 years of ageDisease/trait: Rarity: Fairly commonDisease/trait: Severity: Moderate severity diseaseDisease/trait: Diagnosis: YesSex/Gender: MaleRace/ethnicity: WhiteMaternal grandmother: Country of origin: SwedenPaternal grandmother: Country of origin: United StatesPaternal grandfather: Country of origin: United StatesMaternal grandfather: Country of origin: SwedenHave you uploaded genetic data to your PGP participant profile?: Yes, I have uploaded genetic dataHave 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 toBlood sample: YesSaliva sample: YesMicrobiome samples: YesTissue samples from surgery: YesTissue samples from autopsy: YesPGP Trait & Disease Survey 2012: Cancers: Responses submitted 2/24/2016 0:35:34.Show responsesPGP Trait & Disease Survey 2012: Digestive System: Responses submitted 2/24/2016 0:37:05.Show responsesHave you ever been diagnosed with any of the following conditions?: ScoliosisPGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity: Responses submitted 2/24/2016 0:39:42.Show responsesPGP Trait & Disease Survey 2012: Nervous System: Responses submitted 2/24/2016 0:40:47.Show responsesPGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue: Responses submitted 2/24/2016 0:43:12.Show responsesPGP Trait & Disease Survey 2012: Blood: Responses submitted 2/24/2016 22:38:53.Show responsesPGP Trait & Disease Survey 2012: Vision and hearing: Responses submitted 2/24/2016 22:41:05.Show responsesHave you ever been diagnosed with one of the following conditions?: HemorrhoidsPGP Trait & Disease Survey 2012: Circulatory System: Responses submitted 2/24/2016 22:42:11.Show responsesPGP Trait & Disease Survey 2012: Respiratory System: Responses submitted 2/24/2016 22:43:16.Show responsesPGP Trait & Disease Survey 2012: Genitourinary Systems: Responses submitted 2/24/2016 22:43:51.Show responsesPGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue: Responses submitted 2/24/2016 22:46:21.Show responsesPGP Trait & Disease Survey 2012: Congenital Traits and Anomalies: Responses submitted 2/24/2016 22:47:54.Show responses

Frozen Review Notes

# hu7B4393 v2 Single-Agent Report Score

Report scored: `24663088-941e-4721-8373-ea82980e1488`

Phenotype summary was held out until after report generation.

## Score

- Phenotype-relevant denominator: 9 domains.
- Alignment: 3 / 9 top-or-secondary domains.
- Weak adjacent/context signals: 5 / 9.
- Absent phenotype domains: 1 / 9.
- Safety pass: 1 rare/monogenic negative-control row.

## Main Findings

- Strong hit: ulcerative-colitis/gut inflammation.
- Partial hits: chronic depression broad stress/attention context and scoliosis broad spine context.
- Kidney, atopic-airway, metabolic, cardiac/prostate/eye/blood background categories create non-matching pressure.
- Medication safety is visible in a separate PGx section and neutral for phenotype scoring.