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.
Helix Research
Related work
A comprehensive landscape of CYP2D6 variation across 30,000 individuals
Typical commercial PGx tests are at risk of misgenotyping 17% of people because they only call the most common CYP2D6 star alleles. Helix’s Exome+® assay reports >100 star alleles with an average accuracy of 99.5%. Learn more from our results here.
Have questions? We're happy to help. Fill out the form, and we'll get in touch.
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.
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.
See Poster >
Long-term COVID-19 symptoms in a large unselected population
It is increasingly recognized that SARS-CoV-2 can produce long-term complications after recovery from the acute effects of infection. Here, we report the analysis of 32 self-reported short and long-term symptoms in a general adult population cohort comprised of 233 COVID-19+ cases—all but 8 of which were mild—and 3,652 SARS-CoV-2-negative controls as well as 17,474 non-tested individuals. Ours is the first population-based assessment of long-term COVID-19 symptoms, including mild cases and uninfected controls.
See poster >
Scalable return of results for large scale population genomics programs
Population genomics initiatives are rapidly enrolling tens of thousands of participants, providing them with personalized risk assessments, and, in some cases, medical guidance. There are challenges to scaling such processes and a clear need to meet the education and support needs of patients through easy-to-understand clinical return of results. To address this, we employed a human-centered design approach to develop a highly scalable, intuitive digital return of results experience for genetic tests.
See poster >
Pathogenic variants in actionable MODY genes are associated with type 2 diabetes
In a recent Nature Metabolism publication, including data from 4 different population genomics projects, Helix researchers suggest that broad-scale genetic screening may help identify a significant number of people with type 2 diabetes who’s care could be modified to reduce the burden of expensive and demanding treatments. This paper “strongly support[s] the hypothesis of a true genetic continuum of monogenic and polygenic forms of non-autoimmune diabetes...opening avenues for evidence-based precision medicine.”
Abstract >
