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. 2021 Jul 15;12:706641. doi: 10.3389/fgene.2021.706641

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Copyright © 2021 Vervoort, Dierckxsens, Pereboom, Capozzi, Rocchi, Shaikh and Vermeesch.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Human duplication structure and evolutionary analysis of LCR22-A. (A) De novo assembly of a LCR22-A haplotype. Individual fibers with probe patterns are collected during the analysis of the fiber-FISH slide and later compiled based on matching colors and distances between the probes. SD22 duplicons are assigned to specific probe combinations. (B) UCSC Genome Browser hg38 reference screenshot, with tracks for fiber-FISH probe BLAT positions, segmental duplications, gaps, and RefSeq genes. Assigned duplicons in (A) are decomposed to their corresponding fiber-FISH probes in this reference screenshot. (C) Evolutionary tree representation of the observed LCR22-A haplotypes. Only a subset of assembled haplotypes are depicted for human, to emphasize the human hypervariability. Filled, colored arrows represent copies of duplicons, and hatched arrows represent partial copies of duplicons of the same color.