Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome.

Second, genome-wide comparison indicates a highly significant inverse association of human-specific rearrangements with methylation levels (Kolmogorov-Smirnov test, D max = 0.23, p≈10 −24 ) ( Figure 1B ).

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The CNV variants identified only in the cases showed an approximately two-fold enrichment in hypomethylated regions compared to those found only in controls, but the enrichment did not reach statistical significance threshold due to a small number of variants detected (data not shown).

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