AuraGen Science

Peer-reviewed science.
Clinical-grade sequencing.

Every AuraGen report is built on published GWAS findings, CPIC-guideline pharmacogenomics, and clinical-depth sequencing — not consumer SNP arrays. Here is how the science works.

337K+
UK Biobank participants
Primary calibration cohort
CPIC
Level A pharmacogenomics
Highest evidence tier
PGS
Catalog validated models
pgscatalog.org curated
50+
Wellness traits
Genetic Wellness panel
Four pillars

The science behind every report.

01
Thousands of variants. One number.

Polygenic Risk Scores

Most disease risk isn't determined by a single gene — it's the cumulative effect of thousands of common variants, each contributing a small amount. A polygenic risk score (PRS) sums these contributions using odds ratios from genome-wide association studies (GWAS), then places your score on a population percentile curve.

AuraGen PRS models use the weighted sum method — the international standard used by UK Biobank, PGS Catalog, and all major GWAS consortia. Effect sizes come from the largest published meta-analyses (CARDIoGRAMplusC4D, BCAC, Mavaddat et al.). Population calibration uses UK Biobank n=337,000+.

GWASWeighted sum methodPGS Catalog validatedUK Biobank calibrated
Try the interactive PRS calculator →
02
Your genome. Your metabolism.

Pharmacogenomics

Drug response is highly heritable. Variants in CYP2D6, CYP2C19, SLCO1B1, DPYD, and dozens of other genes determine whether a medication reaches therapeutic levels, builds to toxic concentrations, or fails to activate at all. AuraGen PGx follows CPIC Level A guidelines — the highest evidence tier in clinical pharmacogenomics.

Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines are developed by international expert panels and represent the strongest available evidence for genotype-guided prescribing. CPIC Level A means there is sufficient evidence to recommend changing prescribing based on genotype.

CPIC Level ACYP2D6 · CYP2C19 · CYP3A4/5SLCO1B1 · DPYD · VKORC1PharmGKB curated
03
Sequence once. Query forever.

Whole Exome & Whole Genome

SNP arrays test ~700,000 fixed positions. Whole exome sequencing (WES) reads every protein-coding base — ~50 million bases, revealing rare variants no array would catch. Whole genome sequencing (WGS) goes further, capturing regulatory regions, structural variants, and the full non-coding genome.

AuraGen uses 100× mean exome depth (WES) and 30× whole genome depth (WGS) — clinical-grade coverage thresholds. Alignment via BWA-MEM2, variant calling via GATK HaplotypeCaller, annotation via ClinVar, gnomAD, and OMIM. Raw FASTQ delivered with every WGS kit.

100× exome depth30× genome depthBWA-MEM2 + GATKgnomAD · ClinVar annotated
04
Context matters. Ancestry matters.

Population Genetics & Ancestry

A variant with OR=1.25 in one population may have a different frequency — and therefore a different population-level impact — in another. AuraGen reports your ancestry composition and applies ancestry-appropriate population parameters where available. We are transparent about where multi-ancestry models are still in development.

Principal component analysis (PCA) against 1000 Genomes Project super-populations. gnomAD allele frequencies stratified by ancestry. We actively monitor the PGS Catalog for updated multi-ancestry models and update AuraGen Refresh subscribers annually as new models are validated.

1000 Genomes PCAgnomAD allele frequenciesMulti-ancestry awareAnnual model updates
Live · Interactive

See PRS in action.
Change genotypes. Watch it move.

Our interactive calculator uses the exact same GWAS effect sizes and population statistics that power real AuraGen reports — across 6 disease panels, 22 validated variants. Select genotypes and watch the percentile animate in real time.

CADBreast CancerGLP-1 ResponseMelanomaEndometriosisBone Density
From sample to report

The sequencing pipeline.

1
Sample collection
Buccal swab or saliva. Stabilized in collection tube for ambient shipping.
2
Library prep & sequencing
Illumina NovaSeq 6000. 100× exome or 30× whole genome depth.
3
Alignment & calling
BWA-MEM2 → GATK HaplotypeCaller → VCF. Clinical-grade bioinformatics pipeline.
4
Annotation & scoring
ClinVar · gnomAD · OMIM · PharmGKB. PRS engine applies GWAS weights per panel.
5
Report generation
Physician-formatted PDF + patient portal. Raw FASTQ delivered with WGS kits.
Sequence yours

One sequencing run.
A lifetime of genomic insight.

WES at $349. WGS at $599. Every kit includes Pharmacogenomics, Skin Genomics, and Genetic Wellness reports — plus raw data that powers every future panel we release.