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The Promise and Peril of Data Mining Including a Trip to Iceland Steve 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” to assess performance of those with mutation vs. those without mutation Only possible because ratings are done frequently in nursing homes in Iceland Cognition measured by CPS as a function of age. T Jonsson et al. Nature 000, 1-4 (2012) doi:10.1038/nature11283 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?