Prevalence of exonic CNVs in ACMG 59 genes

Kelly M. Schiabor Barrett, Yunyun Ni, Elizabeth T. Cirulli, Alexandre Bolze, Simon White, Gai Elhanan, Joseph J Gryzmski, James T. Lu, Nicole L. Washington

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.

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

Elizabeth T. Cirulli, Kelly M. Schiabor Barrett, Stephen Riffle, Alexandre Bolze, Iva Neveux, Shaun Gabe, Joseph J. Gryzmski, James T. Lu, Nicole L. Washington

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

Lavania Sharma, MS, CGC, Elissa Levin, MS, CGC

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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Early onset of disease in individuals with a monogenic risk compared to individuals with high polygenic risk for three common autosomal dominant conditions

Alexandre Bolze

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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More about Helix

Helix's comprehensive population genomics solution—including the proprietary panel-grade Exome+ assay, next-generation sequencing lab, and research platform—is powering multiple population health initiatives. Data from these projects have highlighted the potential impact that population genomics initiatives can have on community health outcomes, and have already been used to uncover novel insights into the genetics of health and disease. In response to the COVID-19 public health crisis, Helix has launched a sensitive and scalable end-to-end COVID-19 test system to meet the needs of health systems, employers, governments, and other organizations across the country.

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