A powerful platform
for population-scale genomic research

Helix’s 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.

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Enabling clinical results and powering research with one assay

Helix's proprietary Exome+ assay is a panel-grade clinical exome enhanced by ~300,000 informative non-coding regions. Due to its custom design and proprietary bioinformatics solutions, the Exome+ assay provides the benefits of a targeted panel, the breadth of a microarray, and the completeness of an exome—all from one sample and one assay.


Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records

Helix’s research team analyzed data from >220,000 individuals in the Healthy Nevada Project and the UK Biobank making this the largest gene-based collapsing analysis of its kind. Gene-based collapsing using rare variants—where rare variants in the same gene are considered together as one—is a fairly novel and unique method that enables researchers to narrow in on highly penetrant gene-disease associations.

Read about the study and our results here >

Research tools

UK Biobank Exome Rare Variant Analysis

The UK Biobank released the whole exome sequences of 50,000 volunteers, each of whom has been measured for thousands of traits (phenotypes) and donated their information to the research community. This dashboard provides anyone who is interested in our research the ability to deep-dive into the research results to better understand the findings.


Helix Mitochondrial database (HelixMTdb)

The HelixMTdb database reflects aggregated and de-identified mitochondrial DNA variants observed in individuals sequenced at Helix. These individuals have not been sequenced based on the presence or absence of any medical phenotype (i.e. there are no inclusion or exclusion criteria in the registration process based on any medical phenotype). The full database, HelixMTdb, can be downloaded here. Please use the appropriate citation when using the HelixMTdb. 

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*Panel-grade: defined as a ~100% call rate across every base within clinically relevant panels (offering equivalent or superior quality to clinical panels in the market)

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