Population Genomics

  • What we do
  • Exome+
  • Research

What we do

Reimagining the role of a genomics platform to drive discovery and development

Highly collaborative partnership model
Health systems partner with Helix to launch multi-year, large-scale population research programs, including generation of Exome+® sequencing data, clinical-grade return of results, and ongoing engagement with participants

Rich, dynamic dataset
Helix ingests longitudinal EHRs (5 - 10 years of data, with refresh) to capture deep phenotypic, real-world data paired with Exome+® sequencing data on each individual to enable a genotype- or phenotype-first model

Clinico-genomic R&D

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Clinico-genomic R&D

Accelerate efforts to identify and validate novel targets and better characterize disease

Large-scale patient identification

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Large-scale patient identification

Reach more patients, faster for clinical trials and therapies with a vast partnership network

Real-world evidence generation

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Real-world evidence generation

Support market access, pricing, and label expansion efforts with real-world clinico-genomic data

Go beyond GWAS

Get the performance of a targeted panel, the breadth of a microarray, and the completeness of an exome — all from one assay

Through custom development work and proprietary bioinformatics solutions, we’ve created an assay that meets the needs of both clinicians and researchers in contrast to off-the-shelf assays that are typically optimized for one or the other


An exome, plus more

The Exome+ assay is a panel-grade, clinical exome plus ~300K informative non-coding regions (and tens of millions of imputed variants) and the full mitochondrial genome

Covers ~20,000 genes and detects and reports SNPs, indels, multinucleotide variants, substitutions, and complex variants, intragenic copy number variants (CNVs), and multigenic CNVs, including accurate detection of > 100 CYP2D6 star alleles. Read our white paper to learn more.

Key performance metrics for the Exome+ assay

Call rate at
≥ 20x depth for
600 clinical genes

Sensitivity for
CNVs ≥ 2 exons

non-coding regions

Coverage of the

A powerful platform for population-scale genomic research

Helix’s research platform, supported by our proprietary Exome+ assay, CLIA / CAP next-generation sequencing lab, and proprietary bioinformatics tools, enables genomic research at a scale and depth not previously possible

Highlighted research

COVID-19 spotlight

We'd love to answer your questions, or simply talk more about population genomics and research.

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