A global map for introgressed structural variation and selection in humans
Hsieh P, Soisangwan N, Gordon DS, Javidh A, Harvey WT, Porubsky D, Hoekzema K, Baker C, Munson KM, Kinipi C, Leavesley M, Brucato N, Cox MP, Ricaut FX, Romero IG, Eichler EE.
Abstract
Author Manuscript Genetic introgression from Neanderthals and Denisovan 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) haploid genomes with 94 published assemblies of diverse ancestry to infer an introgressed SV map. Introgressed SVs are enriched in genes (47%), 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 of these 98 assemblies across 1,363 samples reveals 16 adaptive SVs, many associated with immune-related genes and expression, in the PNG. We hypothesize that archaic SVs contributed to reproductive success, underscoring introgression as a significant force in human adaptive evolution. Author Manuscript Keywords Human evolution; adaptive introgression; structural variation
This page indexes the study's public bibliographic record. The full text belongs to the journal; follow the DOI above to read it at the source.