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More Helix Research
With a large, engaged research community, Helix's research team has been active in a diverse range of projects. Learn more about our research below, featuring other ASHG 2020 posters as well as some recent publications. You can also catch up with our research here.
Prevalence of exonic CNVs in ACMG 59 genes
Unlike SNVs and indels, CNVs are not always reported as part of a healthy population screen or secondary findings analysis. Here, we present evidence that they should be, as 0.4% of the ~30,000 healthy individuals enrolled in the Healthy Nevada Project (HNP) were found to have CNV variants in ACMG 59 genes—showcasing the potential clinical impact of adding a CNV analysis to a screening program.
Early onset of disease in individuals with a monogenic risk compared to individuals with high polygenic risk
How does the age of onset of disease for individuals with a high polygenic risk for breast cancer, colorectal cancer, or hypercholesterolemia compare to the age of onset of disease for individuals with monogenic risk—carrying a pathogenic variant—for these conditions? Here, we dive into this question using data from the Healthy Nevada Project cohort, including EHR and Exome+ for 40,000 unselected adults.
Scalable return of results for large scale population genomics programs
GWAS and COVID-19 severity
Data from the Exome+ assay as well as an ongoing phenotypic survey of research consented participants is contributing to studies done through the Host Genetics Initiative. One recent study leveraged this data to support the finding of an association between a specific gene cluster and COVID-19 severity.