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Platform technology

Powering modern genomic medicine

Helix combines advanced sequencing, AI-powered interpretation, and the largest clinical genomics network to deliver diagnostic answers today—and lifetime value for your patients.

The Foundation

Clinical-grade sequencing. Built for what comes next.

The Helix laboratory is one of the largest clinical genomics facilities in North America, processing tens of thousands of samples monthly with industry-leading turnaround times.

  • Exome+® Assay – Comprehensive exome with enhanced clinical regions

  • Multi-Modal Capability – Short-read and long-read whole genome sequencing

  • Sequence Once, Query Often® – One sample becomes a lifetime of queryable data

  • CAP/CLIA Validated – >99% sensitivity, 100% concordance

Workflow: Pharmacogenomics
Exome+
Exome+
srWGS
srWGS
lrWGS
lrWGS
Existing Data
Existing Data
Alignment
Alignment
Coverage QC
Coverage QC
SNV
SNV
Indel
Indel
Variant QC
Variant QC
Panel QC
Panel QC
CNV
CNV
Wayfinder Core
Annotation
Annotation
HLA
HLA
Fusion
Fusion
Del/Dup
Del/Dup
Ancestry
Ancestry
RNA
RNA
Triplet
Triplet
Star Allele
Star Allele
CYP2D6
CYP2D6
TMB
TMB
Pseudogene
Pseudogene
SV Caller
SV Caller

The Intelligence

50+ AI Agents. Working in Parallel. Reasoning at Scale.

Wayfinder™ is Helix's proprietary interpretation engine—a swarm of specialized AI agents that interrogate every variant against global clinical evidence, then synthesize findings using ACMG/AMP guidelines.

  • Parallel Agent Architecture – Gene validity, population data, in-silico predictions, phenotype matching, literature mining, functional evidence—simultaneously

  • Continuous Evidence Monitoring – Daily surveillance of PubMed, ClinVar, gnomAD

  • Explainable Reasoning – Every classification shows its evidence chain

  • Expert Validation – Final review by board-certified geneticists

Wayfinder Core

ACTIVE_SESSION

Gene Validity
ClinGen / OMIM
Population
gnomAD v4
In Silico
REVEL / SpliceAI
Phenotype
HPO Correlation
Helix Network
Clinicogenomic Data
Functional
Experimental Assays
Literature
PubMed / ClinVar
Reasoning
ACMG Engine
Orchestrating variant analysis...

The Data Advantage

Millions of Lives. Powering Every Interpretation.

The Helix Research Network is one of the largest clinicogenomic databases in existence—millions of patients with linked genomic and EHR data. When Wayfinder evaluates a variant, it queries real-world evidence: actual patient outcomes, true clinical penetrance, population-specific frequencies.

  • Clinicogenomic Scale – Millions of patients with exome data + longitudinal EHR

  • Real-World Evidence – How variants actually manifest in real patients

  • Population Diversity – Representative of real-world clinical populations

  • Continuous Enrichment – Every test strengthens the network

Live Evidence Network
3,421,089Queries Matched
Network Status
OPERATIONAL
Helix Network
Secure HRN Node

Sequence Once, Query Often® Architecture