A Pan-pangenome illuminates complex structural variation and selection in humans, chimpanzees, and bonobos
Published in BioRxiv, 2026
We sequence and assemble 58 haplotypes from four distinct Pan clades to high contiguity, including eight near-T2T genomes. We find that structural variants (SVs) are 170- to 260-fold more likely than single nucleotide variants (SNVs) to exhibit high-impact effects across species, and that human disease-associated tandem repeats (TRs) are expanded and highly diverse in humans, sensitizing our species to TR-expansion disorders.
Recommended citation: Rocha, J.L., Lou, R.N, Adam, C.L., Hebbar, P., Ferguson, S., Bolognini, D., Killilea, A., Hoekzema, K., Guarracino, A., Deng, Y., Soranzo, N., Paten, B., Garrison, E., Pollen, A., Eichler, E., Rohlfs, R.V., Mitchell, M., Sudmant, P.H. (2026). A Pan-pangenome illuminates complex structural variation and selection in humans, chimpanzees, and bonobos.
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