screenshot showing allele frequency across several star alleles in 30,000 people

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.

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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.

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.
 

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Long-term COVID-19 symptoms in a large unselected population

Bar graph showing that individuals with >5 initial symptoms tend to experience COVID-19 symptoms longer than those with <5 symptoms

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.
 

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Scalable return of results for large scale population genomics programs

Example bar graph communicating risk of breast cancer to would be participants

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.
 

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Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

Bar graph showing variant types in different ACMG 59 genes

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 >

Bar graph showing that individuals with >5 initial symptoms tend to experience COVID-19 symptoms longer than those with <5 symptoms
Example bar graph communicating risk of breast cancer to would be participants
Bar graph showing variant types in different ACMG 59 genes
Bar graph showing that individuals with >5 initial symptoms tend to experience COVID-19 symptoms longer than those with <5 symptoms
Example bar graph communicating risk of breast cancer to would be participants
Bar graph showing variant types in different ACMG 59 genes