With the continuous improvement in genotyping and molecular phenotyping technology and the decreasing typing cost, it is expected that in a few years, more and more clinical studies of complex diseases will recruit thousands of individuals for pan-omic genetic association analyses. Hence, there is a great need for algorithms and software tools that could scale up to the whole omic level, integrate different omic data, leverage rich structure information, and be easily accessible to non-technical users. We present GenAMap, an interactive analytics software platform that 1) automates the execution of principled machine learning methods that detect genome- and phenome-wide associations among genotypes, gene expression data, and clinical or other macroscopic traits, and 2) provides new visualization tools specifically designed to aid in the exploration of association mapping results. Algorithmically, GenAMap is based on a new paradigm for GWAS and PheWAS analysis, termed structured association mapping, which leverages various structures in the omic data. We demonstrate the function of GenAMap via a case study of the Brem and Kruglyak yeast dataset, and then apply it on a comprehensive eQTL analysis of the NIH heterogeneous stock mice dataset and report some interesting findings. GenAMap is available from http://sailing.cs.cmu.edu/genamap.
The Web is an important resource for understanding and diagnosing medical conditions. Based on exposure to online content, people may develop undue health concerns, believing that common and benign symptoms are explained by serious illnesses. In this paper, we investigate potential strategies to mine queries and searcher histories for clues that could help search engines choose the most appropriate information to present in response to exploratory medical queries. To do this, we performed a longitudinal study of health search behavior using the logs of a popular search engine. We found that query variations which might appear innocuous (e.g. "bad headache" vs "severe headache") may hold valuable information about the searcher which could be used by search engines to improve performance. Furthermore, we investigated how medically concerned users respond differently to search engine result pages (SERPs) and find that their disposition for clicking on concerning pages is pronounced, potentially leading to a self-reinforcement of concern. Finally, we studied to which degree variations in the SERP impact future search and real-world healthseeking behavior and obtained some surprising results (e.g., viewing concerning pages may lead to a short-term reduction of real-world health seeking).
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