Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population.
Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population.
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现代和中世纪爱沙尼亚基因组之间的遗传关联模式揭示了芬兰人口主要祖先组成部分的起源。
DOI：
10.1016/j.ajhg.2021.07.012
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发表时间：
2021
影响因子：
9.8
通讯作者：
Schei
中科院分区：
文献类型：
--
作者：
Kivisild,Toomas;Saag,Lehti;Hui,Ruoyun;Biagini,SimoneAndrea;Pankratov,Vasili;D'Atanasio,Eugenia;Pagani,Luca;Saag,Lauri;Rootsi,Siiri;Mägi,Reedik;Metspalu,Ene;Valk,Heiki;Malve,Martin;Irdt,Kadri;Reisberg,Tuuli;Solnik,Anu;Schei
芬兰人是一个独特的例子，一个遗传隔离受最近的创始人事件。以前的研究表明，讲芬兰语的芬兰人和爱沙尼亚人的祖先在公元前11000年到达波罗的海沿岸地区。然而，高度的语言相似性表明他们的语言最近分裂。为了直接研究芬兰人和爱沙尼亚人之间的遗传关联性，我们首先通过对中世纪爱沙尼亚基因组进行高深度（23×）测序来评估低覆盖率古代基因组的插补效果，并评估其下采样副本的性能。我们发现，从>0.1×覆盖率估算的古代基因组可以可靠地用于主成分分析，而无需投影。通过在超过143，000名现代爱沙尼亚人，99名芬兰人和14名来自爱沙尼亚的估算古代基因组的非阶段数据中搜索长共享等位基因间隔（LSAI;类似于血统身份片段），我们发现爱沙尼亚人和芬兰人在过去八个世纪中的个体联系出乎意料地高，而不是等位基因频率的明显差异。爱沙尼亚人和芬兰人在人口扩张和芬兰后期定居进程之前就高度分享这些部分。这种广泛共享的一个合理来源是公元8 - 10世纪从北爱沙尼亚到芬兰的移民事件，这被认为是为了解释芬兰语和爱沙尼亚北方方言之间独特的共同语言特征，以及来自斯拉夫语的与基督教有关的外来词。这些结果表明，LSAI检测提供了一种计算上易于处理的方法来检测大型队列中的精细尺度结构。
The Finnish population is a unique example of a genetic isolate affected by a recent founder event. Previous studies have suggested that the ancestors of Finnic-speaking Finns and Estonians reached the circum-Baltic region by the 1stmillennium BC. However, high linguistic similarity points to a more recent split of their languages. To study genetic connectedness between Finns and Estonians directly, we first assessed the efficacy of imputation of low-coverage ancient genomes by sequencing a medieval Estonian genome to high depth (23×) and evaluated the performance of its down-sampled replicas. We find that ancient genomes imputed from >0.1× coverage can be reliably used in principal-component analyses without projection. By searching for long shared allele intervals (LSAIs; similar to identity-by-descent segments) in unphased data for >143,000 present-day Estonians, 99 Finns, and 14 imputed ancient genomes from Estonia, we find unexpectedly high levels of individual connectedness between Estonians and Finns for the last eight centuries in contrast to their clear differentiation by allele frequencies. High levels of sharing of these segments between Estonians and Finns predate the demographic expansion and late settlement process of Finland. One plausible source of this extensive sharing is the 8th–10thcenturies AD migration event from North Estonia to Finland that has been proposed to explain uniquely shared linguistic features between the Finnish language and the northern dialect of Estonian and shared Christianity-related loanwords from Slavic. These results suggest that LSAI detection provides a computationally tractable way to detect fine-scale structure in large cohorts.
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影响因子：
9.8
作者：
Browning, Sharon R.;Browning, Brian L.
通讯作者：
Browning, Brian L.
对 487,409 个英国样本的血统身份检测揭示了精细的种群结构、进化历史和性状关联
DOI：
10.1101/2020.04.20.029819
发表时间：
2020
期刊：
bioRxiv
影响因子：
--
作者：
Juba Nait Saada;Georgios Kalantzis;D. Shyr;M. Robinson;A. Gusev;P. Palamara
通讯作者：
P. Palamara
影响因子：
4.5
作者：
Martiniano R;Cassidy LM;Ó'Maoldúin R;McLaughlin R;Silva NM;Manco L;Fidalgo D;Pereira T;Coelho MJ;Serra M;Burger J;Parreira R;Moran E;Valera AC;Porfirio E;Boaventura R;Silva AM;Bradley DG
通讯作者：
Bradley DG
使用 TRUFFLE 在非定相遗传数据中快速准确地检测共享片段并进行相关性估计
DOI：
--
发表时间：
2018
期刊：
bioRxiv
影响因子：
--
作者：
A. Dimitromanolakis;A. Paterson;Lei Sun
通讯作者：
Lei Sun
影响因子：
3.1
作者：
Chaitanya, Lakshmi;Breslin, Krystal;Walsh, Susan
通讯作者：
Walsh, Susan