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.
Work with usTHE 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.
S gene dropout patterns in SARS-CoV-2 tests suggest spread of the H69del/V70del mutation in the US
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes
Long-term COVID-19 symptoms in a large unselected population
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibility
Population genetic screening efficiently identifies carriers of autosomal dominant diseases
Genomewide Association Study of Severe Covid-19 with Respiratory Failure
Saliva is less sensitive than nasopharyngeal swabs for COVID-19 detection in the community setting
Revealing variants in SARS-CoV-2 interaction domain of ACE2 and loss of function intolerance through analysis of >200,000 exomes
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts
Selective constraints and pathogenicity of mitochondrial DNA variants inferred from a novel database of 196,554 unrelated individuals
Genetic counseling, 2030: An on‐demand service tailored to the needs of a price conscious, genetically literate, and busy world
Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing
Modeling the Impact of Surveillance Testing on COVID-19 Infection Rates
Performance of the Helix Exome+ Assay
Clinical applications for the Helix Exome+ Assay
Beyond the cough: symptoms and trends from a COVID-19 survey
Revealing variants in SARS-CoV-2 interaction domain of ACE2 and loss of function intolerance through analysis of >200,000 exomes
Genome-wide rare variant analysis for thousands of phenotypes in >70,000 exomes
Applying Confidence Intervals to Clinical Polygenic Risk Scores in 60,000 Exome+ Sequenced Individuals
First-line preventative genetic screening: Disease penetrance in Tier 1 inherited diseases in an all-comers population is similar to family history selected populations
The spectrum of mitochondrial genomic variation across 250,000 individuals
A genetic retrospective study of Maturity-Onset Diabetes of the Young (MODY) in two population health studies
Are we ready to implement polygenic risk score tests in the clinic? Expanding the utility of prostate cancer polygenic risk score in multiple ethnicities and clinical best practices
A comprehensive landscape of CYP2D6 variation across 30,000 individuals
Bacon: Baited Abrogation of CONtamination
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
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.
*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)
