Large-scale investigation of the reasons why potentially important genes are ignored

Biomedical research has been previously reported to primarily focus on a minority of all known genes. Here, we demonstrate that these differences in attention can be explained, to a large extent, exclusively from a small set of identifiable chemical, physical, and biological properties of genes. Together with knowledge about homologous genes from model organisms, these features allow us to accurately predict the number of publications on individual human genes, the year of their first report, the levels of funding awarded by the National Institutes of Health (NIH), and the development of drugs against disease-associated genes. By explicitly identifying the reasons for gene-specific bias and performing a meta-analysis of existing computational and experimental knowledge bases, we describe gene-specific strategies for the identification of important but hitherto ignored genes that can open novel directions for future investigation.Author summary: Biomedical research is one of the largest areas of present-day science and embeds the hope and potential to improve the lives of the general public. In order to understand how individual scientists choose individual research questions, we study why certain genes are well studied but others are not. While it has been previously observed that most research on human genes only concentrates on approximately 2,000 of the 19,000 genes of the human genome, the reasons for this ignorance are largely unknown. We systematically test explanations for this observation by compiling an extensive resource that characterizes biomedical research, including but not limited to hundreds of chemical and biological properties of gene-encoded proteins, and the published scientific literature on individual genes. Using machine learning methods, we can predict the number of publications on individual genes, the year of the first publication about them, the extent of funding by the National Institutes of Health, and the existence of related medical drugs. We find that biomedical research is primarily guided by a handful of generic chemical and biological characteristics of genes, which facilitated experimentation during the 1980s and 1990s, rather than the physiological importance of individual genes or their relevance to human disease.