What we’re reading this month: March 2018
In between meetings, events, science workshops, and getting work done in the lab, Helix employees love finding a few minutes here and there to read. (A, C, G, and T might be our four favorite letters, but we actually like all of them.) Each month, we’ll be highlighting articles and books that catch our attention.
Have any recommendations of your own? Connect with us on Twitter and let us know.
This month, we’ll take a look at four articles that discuss polygenic scores and identifying genetic diseases through use of electronic health records and DNA sequencing. Additionally, we’re reading about some interesting conversations discussing the utility of DNA sequencing in studying ancient societies—and exploring how olive oil and vinaigrette can tell us about regulation of genetic information.
“What’s Behind Many Mystery Ailments? Genetic Mutations, Study Finds”
The New York Times
A study recently published in Science used electronic medical records from hundreds of people to identify potential genetic diseases. Combined with genetic testing, researchers found a surprising number of genetic diseases that hadn’t been previously identified.
“Validation of a genetic risk score for atrial fibrillation: A prospective multicenter cohort study”
Atrial fibrillation is a significant health issue that can predispose a person to stroke and other health complications. Early identification of people at risk of atrial fibrillation allows clinicians and patients to work together on surveillance routines and lifestyle changes. This recently published article provides early evidence that a polygenic score can be used in conjunction with other clinical parameters to identify those with an increased risk of the condition.
“Divided by DNA: The uneasy relationship between archaeology and ancient genomics”
How can modern DNA sequencing technology support the study of ancient peoples? Nature explores the growing trend of genetic sequencing of ancient DNA and how these studies fit into the work of anthropologists and archeologists. Similar to the arguments that took place when carbon dating was first introduced, genetics is not yet universally accepted by the field, but there is the potential for benefit from the fusion of these technologies.
“What lava lamps and vinaigrette can teach us about cell biology”
If you’ve seen oil and vinaigrette mixed together, you’re familiar with the notion of phase separation—the concept that the molecular properties of some liquids can prevent them from mixing with other, dissimilar liquids. This article describes how this concept has been brought to the world of cell biology and is helping scientists to understand how processes in a cell might be regulated by phase separation. Insights from these kinds of studies may inform us on how proteins and genetic material are regulated in a cell.
Helix is the leading population genomics and viral surveillance company operating at the intersection of clinical care, research, and data analytics.