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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Research

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THE EXOME+® ASSAY

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.

FEATURED ARTICLE

Saliva is less sensitive than nasopharyngeal swabs for COVID-19 detection in the community setting

The focus of this research was to determine whether saliva-based testing for COVID-19 was sensitive enough to detect COVID-19 in the community setting, where patients are likely less symptomatic and thus where viral loads are likely lower. We focused on two specific use cases that are critical to loosening social distancing guidelines: Diagnosing new COVID-19 infections in the community setting; and determining if someone is no longer infectious after contracting COVID-19 and thus safe to come into contact with uninfected individuals, such as in a “back to work” scenario.

We enrolled and consented a total of 88 individuals who presented and qualified for testing in the Diagnostic Cohort to evaluate whether self-collected saliva could alleviate some of these challenges. NPS and saliva samples were collected simultaneously from each individual and sent to the Nevada State Health Lab, which used the CDC RT-qPCR assay for diagnostic testing. Saliva samples were sent to Helix, where RNA was extracted and evaluated using the PrimerDesign COVID-19 assay performed at Helix and the TaqPath Multiplex RT-PCR COVID-19 assay performed at UC San Diego.

We found that, relative  to nasopharyngeal swabs, the sensitivity of saliva was approximately 30% lower in a community-based diagnostic cohort and 50% lower in a convalescent cohort. Unfortunately, this suggests that saliva is not sufficiently sensitive to be the broad-based testing modality, even though it may work for acute / admitted COVID patients in the hospital. We will keep working on scalable alternative approaches.

Read the full study

Saliva vs NPS sensitivity in diagnostic cohort (image from our blog)

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.

Access

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. 

Download the HelixMTdb

*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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