ArticleNational science review2026
Admixture-driven structural variation diversity and its functional implications.
Article in National science review, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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15 authors.
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Abstract
Population admixture is a potent evolutionary force shaping genomic diversity, yet its influence on the dynamics and functional consequences of structural variation (SV) remains poorly understood. Here, we present a comprehensive whole-genome sequencing analysis of SVs in the Uyghurs, a model admixed Eurasian population with distinct Western and Eastern ancestral contributions. We identified 9965 high-confidence SVs, revealing that Uyghurs exhibit 32% novel SVs and 1.19-fold greater SV-transcription diversity compared to their ancestral source populations. Crucially, SV diversity follows a non-linear parabolic relationship with ancestry proportions (r = 0.94), peaking when Western/Eastern ancestry contributions are balanced. Admixture-induced recombination at ancestry junctions creates SV hotspots via non-allelic homologous recombination (NAHR), with 60% of post-admixture SVs flanked by homologous repeats. Ancestry-divergent SVs disproportionately regulate gene expression, while admixed variant combinations (e.g.
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