Adam D. Ewing; Haig H. Kazazian

Whole-genome resequencing allows detection of many rare LINE-1 insertion alleles in humans

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Figure 1.

Histograms of filled-site allele frequencies estimated from L1 insertion site presence/absence counts for reference and nonreference L1 insertion sites (Supplemental Fig. S2a,b). (A) Estimated allele frequencies for detected L1 insertions shared with the reference genome. (B) Estimated allele frequencies for detected L1 insertions not present in the reference genome assembly.