Figure 5.
Features of recessive disease genes deleted in our cohort. The 419 recessive disease genes deleted at least once by a Tier 1 heterozygous CNV were compared with all other recessive disease genes. Those deleted in our cohort are (A) farther from the nearest dominant disease gene (P = 3.3 × 10−15); (B) larger, genomically (P = 9.3 × 10−16); and (C) had a lower fractional Alu content (P = 2.3 × 10−11) than the remaining recessive disease genes. All P-values result from the Wilcoxon rank sum test with continuity correction.
