A global map for introgressed structural variation and selection in humans

Глобальная карта интрогрессировавших структурных вариантов и отбора у человека
Evan E. Eichler, François‐Xavier Ricaut, Kendra Hoekzema, Katherine M. Munson, David Porubskỳ, Carl Baker, PingHsun Hsieh, Irene Gallego Romero, Nicolas Brucato, Matthew Leavesley, Murray P. Cox, David Gordon, William T. Harvey, Christopher Kinipi, Natthapon Soisangwan, Athef Javidh
2026-06-11

Neanderthal and Denisovan introgressionadaptive structural variationarchaic-derived centromereshuman pangenomeintrogressed structural variants
Genetic introgression from Neanderthals and Denisovan has shaped modern human genomes; however, introgressed structural variants (SVs ≥50 base pairs) remain challenging to discover. We integrated high-quality phased assemblies from four new Papua New Guinea (PNG) genomes with 94 published assemblies of diverse ancestry to infer an archaic introgressed SV map. Introgressed SVs are overall enriched in genes (44%, n=1,592), including critical genomic disorder regions, and most abundant in PNG. We identify 11 centromeres likely derived from archaic hominins, adding unexplored diversity to centromere genomics. Pangenome genotyping across 1,363 samples reveals 16 candidate adaptive SVs, many associated with immune-related genes and their expression, in the PNG. We hypothesize that archaic SV introgression contributed to reproductive success, underscoring introgression as a significant force in human adaptive evolution.
1
A global map of Neanderthal- and Denisovan-introgressed structural variants was constructed using 98 high-quality phased human genome assemblies, including four new Papua New Guinea genomes.
2
Eleven centromeres were identified as likely derived from archaic hominins, expanding known centromeric diversity.
3
Introgressed structural variants are enriched in genes, comprising 44% of identified variants (n=1,592), including regions implicated in genomic disorders.
4
Pangenome genotyping across 1,363 samples identified 16 candidate adaptive structural variants, many linked to immune-related genes and gene expression, suggesting roles in human adaptation and reproductive success.
5
Papua New Guinea genomes contain the greatest abundance of introgressed structural variants among the sampled populations.

Introgressed structural variants (SVs ≥50 base pairs) in modern human genomes derived from Neanderthals and Denisovans

The genomic distribution, gene enrichment, centromeric occurrence, and adaptive selection of archaic introgressed SVs, including their associations with immune-related genes, gene expression, and human reproductive success

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2026-06-11
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Authors
Evan E. Eichler
François‐Xavier Ricaut
Kendra Hoekzema
Katherine M. Munson
David Porubskỳ
Carl Baker
PingHsun Hsieh
Irene Gallego Romero
Nicolas Brucato
Matthew Leavesley
Murray P. Cox
David Gordon
William T. Harvey
Christopher Kinipi
Natthapon Soisangwan
Athef Javidh
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