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.
HLA-A*03:01 is associated with increased risk of fever, chills, and more severe reaction to Pfizer-BioNTech COVID-19 vaccination
Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records
SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads
Comprehensive allele genotyping in critical pharmacogenes reduces residual clinical risk in diverse populations
Emergence and rapid transmission of SARS-CoV-2 B.1.1.7 in the United States
Genomic epidemiology identifies emergence and rapid transmission of SARS-CoV-2 B.1.1.7 in the United States
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
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.
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)