Figure 2

Non-pathogenic deletions are depleted in genes and topological domain boundaries. (A,B) Percentage of deletions that overlap at least one topological domain boundary (TDB). (A) DECIPHER and (B) WTCCC2. Deletions are compared with randomized data in which the same number of deletions (922 for DECIPHER and 1,958 for WTCCC2) of the same sizes as the original deletions were placed at random positions of the genome. This randomization was performed a total of 10,000 times, and the empirical distribution of TDB overlaps is plotted as gray bars. (C,D) Average number of genes overlapped by (C) DECIPHER and (D) WTCCC2 deletions compared with randomized data generated as in (A) and (B). CNV, copy-number variation/variant; TDB, topological domain boundary; WTCCC2, Wellcome Trust Case Control Consortium 2.