The Promise and Peril of Data Mining

Including a Trip to IcelandSteve Smela, CSCI 5707

October 8, 2013

Connections to CSCI 5707

• Text Chapter 28 (Weeks 13 & 14)—Data Mining

Iceland’s Flag

Iceland’s Coat of Arms

Iceland’s King

Map of Iceland

What Does Iceland Have?

Icelandic Sheep

Glaciers

Volcanoes and Stuff

But Most Importantly….

Icelanders!(324,000 of them)

Ingolfur Arnarson, 1st Permanent Norse Settler in Iceland

One of Ingolfur’s Descendants

Used “Cognitive Performance Scale” toassess performance of those withmutation vs. those without mutation

Only possible because ratingsare done frequently in nursinghomes in Iceland

T Jonsson et al. Nature 000, 1-4 (2012) doi:10.1038/nature11283

Cognition measured by CPS as a function of age.

The Promise of Data Mining

• Possible insights into Alzheimer’s Disease, leading to new treatments

The Perils of Data Mining-I

• Correlation does not equal causality• Just because A673T is associated with better

scores on the Cognitive Performance Scale, it doesn’t mean that the mutation protects against Alzheimer’s

• Independent confirmation needed

Ways to Verify Insights Gained from Data Mining

• In “Big Data” context, it’s common practice to split data into at least 2 (sometimes more) sets– Training set– Validation set

• In Icelandic study, what did they do?

Independent Testing of Hypothesis

Perils of Data Mining-II

What Does this Mean?

Take-Home Messages

• Data mining holds great potential, especially in ideal conditions like Iceland

• Associations found through data mining must be independently verified

• Data mining must take into account ethical issues such as the informed consent of the research subjects

Sources• http://news.sciencemag.org/people-events/2012/12/purchase-amgen-wont-affect-decode-genetics-research-founder-says• http://en.wikipedia.org/wiki/Iceland• Jocelyn Kaiser. 2013. “Agency Nixes deCODE's New Data-Mining Plan.” Science 340, 1388-1389 (21 June 2013).• http://www.decode.com/ and http://www.decode.com/news-events/• http://www.interrai.org/assets/files/Scales/Cognitive%20Performance%20Scale.pdf• Thorlakur Jonsson, Jasvinder K. Atwal, Stacy Steinberg, Jon Snaedal, Palmi V. Jonsson, et al. 2012. “A Mutation in APP Protects against Alzheimer’s

Disease and Age-Related Cognitive Decline.” Nature 488, 96–99 (02 August 2012).• Jeff Gulcher, Agnar Helgason, and Kári Stefánsson. “Genetic Homogeneity of Icelanders.” Nature Genetics 26, 395 (2000).

Questions?