Figure 5

Case study assessment of ASE genes. A) ASE percentage distribution in 1,000 Genomes Project and Barbieri et al. dataset. Difference in ASE percentage distribution among samples in the 1,000 Genomes Project dataset, the Barbieri et al. dataset and the Barbieri et al. dataset with SCNAs filtered out. Comparison is made both for overall ASE genes and high score ASE genes. Wilcoxon statistical test is used to compare the distributions. B) Genes showing ASE in multiple individuals. Frequency distribution of genes showing ASE in at least N (1,2,..,22) individuals, divided by ASE genes and ASE genes with high score. The inset highlights the tail of the distribution and lists the genes that show ASE in at least 13 to 19 individuals. C) Genes showing ASE in at least one individual (top). Genes with ASE score associated to RPKM levels (bottom). Top panel shows the genomic localization across the human genome of all the ASE genes with low score and ASE genes with high score. Bottom panel shows the distribution across the genome of all the ASE genes with score associated to the corresponding RPKM transcript level (P < 0.01). The inset shows two prostate cancer related ASE genes with corresponding RPKM transcript levels differences.