Recent research effort (measured in number of publications) on genes is biased towards genes that have been studied heavily in the past. Some factors for why this occurs is that many of these historically studied genes are important for survival or there are more tools available that make genetic studies of them much more accessible. Studies of research effort on \textit{Saccharomyces cerevisiae} genes characterized with genetic or protein interactions found that there is an aversion to studying lesser-known genes in networks. As well, in a study of three human protein families, many of the genes that have recently been discovered to have association with complex disease, through methods such as genome wide association studies (GWAS), are understudied in the present compared to the small number of historically heavily studied genes. In this study we explore possible causes of and diversion from this preferential bias with gene conservation and human genes being disease-associated. We find there is some evidence of conservation driving biases in research effort for essential genes in \textit{Saccharomyces cerevisiae}, but inconclusive evidence in other organisms. We look for effects of disease association through Mendelian and complex diseases in a historical, pre-GWAS, and contemporary, post-GWAS, context. Within both contexts we find that Mendelian disease genes may drive preferential study bias. For contemporary research effort we utilize a model of publication rates and find that there are individual GWAS genes that tend to be investigated more than predicted compared to non-GWAS genes. It appears that the proportion of GWAS genes that had highly unexpected increases in publication rate compared to model predictions rose fairly quickly but has been declining. Our analysis suggests that GWAS has had a small impact on what genes some scientists study despite preferential study biases. However GWAS gene-disease association's impact on research effort appears to be declining, possibly due to scientists not being as interested in GWAS results as time goes on.
| Identifer | oai:union.ndltd.org:arizona.edu/oai:arizona.openrepository.com:10150/621183 |
| Date | January 2016 |
| Creators | Struck, Travis Jared, Struck, Travis Jared |
| Contributors | Gutenkunst, Ryan N., Monti-Masel, Joanna, Watkins, Joseph C. |
| Publisher | The University of Arizona. |
| Source Sets | University of Arizona |
| Language | en_US |
| Detected Language | English |
| Type | text, Electronic Thesis |
| Rights | Copyright © is held by the author. Digital access to this material is made possible by the University Libraries, University of Arizona. Further transmission, reproduction or presentation (such as public display or performance) of protected items is prohibited except with permission of the author. |
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