In order to understand the underlying genetic health risks of their patient populations, more and more health systems are undertaking and utilizing population genomic screening approaches. These programs embark on the large-scale genetic screening of all-comer populations within a community that enables the use of actionable genomics insights at point of care. Evidence from these … Read more
In January, Helix scientists published the first pharmacogenomics study on COVID-19 vaccine reactions, reflecting the power of collecting and combining phenotypic data with comprehensive sequencing on large populations. Scientists surveyed more than 17,000 participants from the Helix DNA Discovery Project and Healthy Nevada Project, who had their DNA previously sequenced with the Helix Exome+ … Read more
One of the largest gene-based collapsing analyses reveals potential candidate genes for population screening
A recent paper from the Helix research team presents evidence that four additional gene-disease associations warrant consideration: GCK with diabetes mellitus, HBB with hemoglobinopathies, PKD1 with cystic kidney disease, and MIP with cataracts.
Evidence of “double mutant” substitutions E484Q and L452R in the B.1.429 lineage suggest convergent evolution of immune escape mutations
Two variants have been shown to help the SARS-CoV-2 virus avoid the immune system’s antibody response; their emergence in separate viral lineages suggests convergent evolution in response to selective pressure.
As we wrap up 2020 and look back at the year we’ve all endured, it’s important to highlight the places where humanity shone through the darkness. One such place is in our research community. While the people around the nation were forced into isolation by stay at home orders or self-imposed quarantine, our research community … Read more
In a recent study, researchers from an international consortium used genetic data alongside survey responses to gain insight into how our DNA may affect our vulnerability to the SARS-CoV-2 virus (the virus responsible for the COVID-19 pandemic).
Data from Helix’s research community is helping scientists around the world, including a recent finding published in the New England Journal of Medicine.
Our team of researchers are currently working through the data, but we have already found some interesting insights in our collection of survey responses, and we’ve contributed our findings to a worldwide research effort, consisting of renowned scientists from around the globe. These results, described below, highlight the power of population health studies and the impact of sharing information early and often.
Helix researchers, along with collaborators from Renown Health and UC San Diego, found that, relative to nasopharyngeal swabs, the sensitivity of saliva was approximately 30% lower in a community-based diagnostic cohort and 50% lower in a convalescent cohort
Over the next several days, Helix researchers will be reaching out to hundreds of thousands of people—each of them having already had their DNA sequenced by Helix—with a short survey. The survey collects information about a person’s possible exposure to COVID-19, any symptoms (or lack thereof) that they may be experiencing, and any medications they … Read more