John Novembre may be a newly-crowned MacArthur fellow, but until last week he was better known by some as “the guy with the figure.” The computational biologist is responsible for an image that is changing the way people think about genetics — a simple map of Europe.
But sometimes a map is not just a map. In fact, Novembre arrived at his figure in a somewhat roundabout fashion. Instead of looking at the borders of European countries, he mapped over 500,000 locations on the genomes of over 3,000 Europeans, then superimposed their similarities. The result looked awfully like Europe itself, proving that genes actually mirror geography.
“Nobody expected that genetic data would so clearly reflect geography,” he recalls. The map translated tiny differences in a person’s genome into surprisingly accurate geographical data, often pinpointing someone's geographic place of origin within just a few hundred miles. In a shocking example of data reflecting life, it even shows Italians clustering into a boot-like line and Sardinians clustering into an island-like structure.
— Rob Arthur (@No_Little_Plans) September 29, 2015
It isn’t easy boiling down centuries of evolutionary information into a single map — and it’s a process that keeps Novembre up at night. “It’s data through the lens of a simplified mathematical model,” he warns — one he worries could make genetic differences seem more dramatic than they actually are. In fact, his work has made him aware of the similarities between humans. “Some of the features we see as most different are actually anomalies in the genome,” he notes. “Humans are a relatively young species and we haven’t built up a lot of differences.”
The visualization suggests that a person’s genes contain not just surprising clues about where they come from, but more information on human evolution than scientists had suspected. Because the biggest genetic differences were found in areas affected by things like diet and local environments, larger visualizations could help pinpoint how, where and when such factors affected human evolution.
Novembre is now trying to determine how to use ancient DNA in similar visualizations that could reveal how environmental interactions and historical events affected human evolution thousands of years ago — maps that could add even more nuance and detail to our vision of current and past human diversity. And he hasn’t stopped with his map of Europe: In 2011, he spearheaded a project that mapped the genome of genetic variants among African Americans in an attempt to make it easier for scientists to help spot disease.
As Novembre tries to find more ways to map the geography of the human genome, he sees his MacArthur grant as not just a validation (“I’d like to think my career consists of more than just the figure”) but a call to arms. “It’s not an award for lifetime achievement,” he says. “It’s a call for creative potential. Let’s do this, and do it bigger, and do more of it — apparently it’s having an impact.”