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[Preprint]. 2024 Mar 13:2024.03.12.584650. [Version 1] doi: 10.1101/2024.03.12.584650

Figure 6: Pangenomic characterization and expression of TBC1D3 in humans.

Figure 6:

(A) Maximum likelihood phylogeny of all validated TBC1D3 cluster 1 and 2 paralogs in humans, outgrouped to chimpanzee TBC1D3. Individual cluster paralogs were identified by limiting intra-cluster variation to 1.5× allelic variation observed in SD sequence. This resulted in a gene family of 11 common paralogs. (B) Inversion haplotype of HG01109 hap2 (bottom) aligned to CHM13 (top). (C) Visual illustration of CHM13 clusters 1 and 2 with new paralog characterization, and expression of these paralogs across iPSCs and fetal brain Iso-Seq libraries, normalized to median haplotype paralog copy number.