Foundational · Re-annotation

Atlas Delphi.

Your variants, consulted against the scientific record.

Upload your VCF file. Receive a structured annotation report referencing ClinVar, PharmGKB, gnomAD, and ACMG guidelines. Designed for review with your physician.

What the report contains

Every variant, annotated with rigour.

Three examples from a typical Atlas Delphi report. Every finding is cited, every classification is traceable.

Example · DNA repair

BRCA1 c.5266dupC (p.Gln1756Profs*74)

chr17:43057078 (GRCh38)

ClinVar classification: Pathogenic (3★ review status)
Variation ID: VCV000055407
ACMG criteria: PVS1, PM2, PP5
Classification: Class 5 (Pathogenic)
gnomAD v4.1 frequency: 0.00012% (global)
Population context: Founder variant in specific populations (see literature citations)
Literature: Struewing et al. 1997 (NEJM); Hartman et al. 2012 (BRCA1 founder mutations)

Frameshift variant in BRCA1 exon 20. Predicted to cause loss of function via nonsense-mediated decay. One of three Ashkenazi Jewish founder mutations. Flagged for physician review under ACMG guidelines.

Example · Pharmacogenomics

CYP2C19*2 (rs4244285)

chr10:94781859 (GRCh38)

PharmGKB annotation: Level 1A
Allele function: No function
Metabolizer status: Intermediate (*1/*2) or Poor (*2/*2)
gnomAD v4.1 frequency: 15.1% (global)
Population context: 20–25% in East Asian populations
Clinical guidelines: CPIC (clopidogrel, PPIs, voriconazole, SSRIs)

Most common CYP2C19 loss-of-function variant. Associated with altered metabolism of multiple medications. CPIC guidelines recommend alternative therapy or dose adjustment for affected individuals. Flagged for physician awareness during prescribing decisions.

Example · Variant of limited significance

MTHFR c.665C>T (rs1801133, C677T)

chr1:11796321 (GRCh38)

ClinVar classification: Benign / Risk factor (conflicting interpretations, reviewed)
gnomAD v4.1 frequency: 32% heterozygous, 9% homozygous (global)
Enzyme activity: ~65% (heterozygous), ~30% (homozygous)
Clinical relevance: Limited evidence for most claimed associations

High-frequency common variant extensively studied but with limited clinical significance for most claimed associations. Modest effect on folate metabolism. Atlas Delphi reports population frequency context to help distinguish common variants from actionable findings. Included here to illustrate how the report handles variants that are frequently overinterpreted online.

Positioning

What this is — and what it isn't.

What Delphi is

Variant annotation against public scientific databases
A structured compilation of published research on your specific variants
Reference material for conversation with your physician
Cited, transparent, reproducible

What Delphi is not

Medical advice, diagnosis, or treatment recommendation
A substitute for medical genetics consultation
A prediction of future health outcomes
Supplement recommendations or screening schedules

We annotate. Your physician interprets.

Compatibility

Works with any VCF file.

Atlas Delphi accepts VCF 4.x files from any clinical-grade sequencing provider. File should be ≤50MB, .vcf or .vcf.gz format.

Atlas Baseline (included free if you already ordered)
Nebula Genomics
Dante Labs
Sequencing.com
Any clinical-grade WGS provider producing standard VCF 4.x

Sample report

What the report contains.

A structured PDF organized for clinical review. Every finding cites the public database entry and, where applicable, the underlying literature.

Atlas Delphi — Variant Annotation ReportPDF · preview

§01Executive summary
§02High-confidence findings (ClinVar pathogenic / likely pathogenic)
§03Pharmacogenomic variants (PharmGKB annotations)
§04Population frequency context (gnomAD)
§05Variants of uncertain significance
§06ACMG classification summary
§07Full citation list