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. 2020 Mar 4;10(5):1647–1655. doi: 10.1534/g3.119.400613

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Copyright © 2020 Reiner et al.

This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Example image of a successful and unsuccessful confirmatory PCR. PCR experiments were conducted to determine the proportion of putative novel non-ref L1Hs insertions detected by REBELseq that could be independently validated. For each insertion, gDNA from a person predicted to have the L1Hs insertion (+) and a person not predicted to have the insertion (-) were used to amplify the genomic region purported to contain the L1Hs insertion (Filled site, F) and the same genomic region if it did not contain the insertion (Empty site, E). Insertion #1 is a positive confirmation of the results predicted by REBELseq, while Insertion #2 is a negative confirmation.