Fig. 1

Biomedical scientific publications are highly unequally distributed and strongly skewed toward genes involved in Mendelian disease, even after the advent of GWAS. a The distribution of publications among all human genes is highly uneven. Plotted is the number of publications per gene, with genes sorted by number of publications. (The gene with the fewest publications is plotted as rank 1, and the gene with the most publications as rank 20,422.) A few genes are the subject of thousands of publications each, whereas thousands of genes are the subject of fewer than ten publications each. b The distribution of publications among all human genes is more uneven in the post-GWAS era (2005 and later) than in the pre-GWAS era (before 2005). Shown in this Gini plot are the cumulative proportions of publications in each category versus gene rank. The further the curve is from the diagonal, the more uneven the distribution. For comparison, the distribution of publications among yeast genes is shown, with the yeast x-axis stretched to match the number of human genes. c Highly studied genes tend to be involved in Mendelian disease. Plotted are the distributions of genes among publication rank for genes of each possible type of disease association and for both the pre- and post-GWAS eras. (Distributions are not normalized across types of disease association.) In both eras, genes involved in Mendelian diseases are strongly enriched toward high publication ranks. By contrast, many genes involved only in complex disease rank low in terms of publications