john hawks weblog

paleoanthropology, genetics and evolution

rare variants

  • The importance of rare variants

    Tue, 2013-01-15 11:20 -- John Hawks

    I was reading an article on massive open online courses (MOOCs) ("MOOCs Assessed, Modestly"), and struck by the final quote:

    “In a regular Stanford class, if 2 of 100 students got something like that wrong, we wouldn’t even notice it,” [Andrew] Ng said. “But when 2,000 out of 100,000” do, it’s immediately evident. “It’s ironic that in order to achieve personalization at the level of telling students exactly what their misconception is, what was needed was to teach massive amounts of students.”

    It's not ironic, it's exactly why we're expanding genetic studies to include hundreds of thousands of subjects. A complex system can fail in many ways, most of which will be rare. Finding rare causes requires giant samples. But what I love most about this Coursera example is that they figured out a way to flag the error as students make it, so that they can learn at the moment when they might make the mistake. Following students through the system, on a massive scale, gives a new way to improve learning.

Subscribe to rare variants

Neandertals

For years, I've worked on their bones. Now I'm working on their genes. Read more about the science studying these ancient people.

Denisova

From a finger bone of an ancient human came the record of a completely unexpected population. My lab is working on the science of the Denisova genome.

Acceleration

The advent of agriculture caused natural selection to speed up greatly in humans. We're uncovering some of the ways that populations have rapidly changed during the last 10,000 years.

Malapa

Just outside Johannesburg, the Malapa site is producing some of the most exciting finds in human evolution. This site is the headquarters of the Malapa Soft Tissue Project.