研究组介绍TRACE,一个参考和外群体自由的方法,主题祖先重组图的特征,以识别古老的祖先。仿真结果表明,TRACE算法具有较高的精度和较低的错误发现率。应用于1000个基因组,TRACE恢复了已知的尼安德特人和丹尼索瓦人的基因渗入,并在非洲人和非非洲人中发现了未表征的古人类的鬼混合。幽灵祖先在尼安德特人和丹尼索瓦人祖先的沙漠中持续存在,挑战了他们作为智人特定地区的解释。在大洋洲,TRACE发现,与尼安德特人地区相比,丹尼索瓦人地区的深层谱系更丰富,支持超古渗透。TRACE可以在没有古基因组的情况下绘制古渗入图。
研究人员表示,现代人与已灭绝的古人类的混合形成了现代人的基因组,但由于缺乏古代样本和未混合的外群体,重建这段历史受到了限制。
附:英文原文
Title: Recovering signatures of archaic hominin introgression using ancestral recombination graphs
Author: Yulin Zhang, Arjun Biddanda, Sarah A. Johnson, Colm O’Dushlaine, Priya Moorjani
Issue&Volume: 2026-07-30
Abstract: Admixture between modern humans and extinct hominins has shaped the genomes of present-day individuals, but reconstructing this history has been constrained by the scarcity of archaic samples and unadmixed outgroup populations. We introduce TRACE, a reference- and outgroup-free approach that uses features of ancestral recombination graphs to identify archaic ancestry. Simulations show TRACE has high precision and low false discovery rates. Applied to 1000 Genomes, TRACE recovers known Neanderthal and Denisovan introgression and uncovers ghost admixture from uncharacterized hominins in both Africans and non-Africans. Ghost ancestry persists in Neanderthal and Denisovan ancestry deserts, challenging their interpretation as Homo sapiens–specific regions. In Oceanians, TRACE finds deep lineages are enriched in Denisovan compared to Neanderthal regions, supporting super-archaic introgression. TRACE enables mapping archaic introgression without archaic genomes.
DOI: aef8874
Source: https://www.science.org/doi/10.1126/science.aef8874
