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&DMore details
Accelerate efforts to identify and validate novel targets and better characterize disease
Large-scale patient identificationMore details
Large-scale patient identification
Reach more patients, faster for clinical trials and therapies with a vast partnership network
Real-world evidence generationMore details
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.
Call rate at
≥ 20x depth for
600 clinical genes
CNVs ≥ 2 exons
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
Genome-wide rare variant analysis drives novel biomarker discoveries
In a first of its kind study – both in terms of the number and rarity of the variants analyzed (all coding variants) as well as in its use of multiple, large independent cohorts (The Healthy Nevada Project and UK Biobank) - Helix researchers identified over 100 gene-phenotype associations, including the discovery and validation of a number of novel biomarkers. This research was conducted on the Helix Research Platform, which is designed to easily handle large-scale genotype-phenotype datasets. Read it at Nature Communications.
You can find a full list of our research, including our pre-prints, poster presentations, and published white papers here.
Exploring novel testing approaches and genetic susceptibility
As the COVID-19 pandemic continues to unfold, we've been finding ways to leverage our infrastructure and experience to advance our collective knowledge, including:
— Evaluating the viability of saliva as a specimen type: In a study with 88 patients in the community setting, we found saliva-based COVID-19 testing was 30% less sensitive than nasopharyngeal swabs. Read more on medRxiv or our summary blog post here.
— Large-scale user research: We surveyed our pre-sequenced, consented research participants about possible COVID-19 exposure, symptoms, and treatment to better understand genetic susceptibility to COVID-19. We're crunching the data now, but you can read about the work here and some preliminary insights here.
— Variation in the ACE2 receptor: We also looked across several hundred thousand exomes to analyze variation in the ACE2 receptor, which is the binding site for SARS-CoV-2. Results are here.