Top predicted phenotype and matching medical phenotype.

The set of conserved binding site eroding loci (CoBELs) for each individual is searched for the most significant congregation of binding site erosion events next to a group of genes sharing the same function or phenotype (see text). Per personal genome, the top row columns 2–7 describe the obtained top prediction from personal genome data and its properties. The Fold enrichment and FDR q-value are both reported by GREAT’s binomial enrichment test, fraction of relevant genes is the number of genes annotated for the phenotype (those listed in affected target genes) divided by all genes annotated with the phenotype. Column 8 highlights the matching personal medical phenotype. The bottom row for each personal genome spanning columns 2–7 provides exact quotes from references that confirm the link between the predicted and observed phenotypes (columns 2 and 8 for each personal genome).