The Precision and Power of Population Branch Statistics in Identifying the Genomic Signatures of Local Adaptation.

IF 3.2 2区 生物学 Q2 EVOLUTIONARY BIOLOGY
Max Shpak, Kadee N Lawrence, John E Pool
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Abstract

Population branch statistics, which estimate the degree of genetic differentiation along a focal population's lineage, have been used as an alternative to FST-based genome-wide scans for identifying loci associated with local selective sweeps. Beyond the population branch statistic (PBS), the normalized PBSn1 adjusts focal branch length with respect to outgroup branch lengths at the same locus, whereas population branch excess (PBE) incorporates median branch lengths at other loci. PBSn1 and PBE were proposed to be more specific to local selective sweeps as opposed to geographically ubiquitous selection. However, the accuracy and statistical power of branch statistics have not been systematically assessed. To do so, we simulate genomes in representative large and small populations with varying proportions of sites evolving under genetic drift or (approximated) background selection, with local selective sweeps or geographically parallel selective sweeps. We then assess the probability that local selective sweep loci are correctly identified as outliers by FST and by each of the branch statistics. We find that branch statistics consistently outperform FST at identifying local sweeps. Particularly when parallel sweeps are introduced, PBSn1 and PBE correctly identify local sweeps among their top outliers more frequently than PBS. Additionally, we evaluate versions of these statistics based on maximal site differentiation within a window, finding that site-based PBE and PBSn1 are particularly effective at identifying local soft sweeps. These results validate the greater specificity of the rescaled branch statistics PBE and PBSn1 to detect population-specific positive selection, supporting their use in genomic studies focused on local adaptation.

种群分支统计在识别局部适应基因组特征中的准确性和效力。
种群分支统计,估计沿焦点种群谱系的遗传分化程度,已被用作基于fst的全基因组扫描的替代方法,用于识别与局部选择性扫描相关的位点。除种群分支统计量(PBS)外,归一化的种群分支统计量(PBSn1)根据同一位点的外群分支长度调整焦点分支长度,而种群分支过剩(PBE)则结合其他位点的中位数分支长度。与地理上普遍存在的选择相反,PBSn1和PBE被认为更特定于局部选择性扫描。然而,分支统计的准确性和统计力尚未得到系统的评估。为了做到这一点,我们模拟了具有代表性的大小群体的基因组,这些群体在遗传漂变或(近似)背景选择下进化的位点比例不同,采用局部选择性扫描或地理平行选择性扫描。然后,我们评估局部选择性扫描位点被FST和每个分支统计正确识别为异常值的概率。我们发现分支统计数据在识别本地扫描方面始终优于FST。特别是当引入并行扫描时,PBSn1和PBE比PBS更频繁地正确识别其顶部异常值中的本地扫描。此外,我们基于一个窗口内的最大位点分化来评估这些统计数据的版本,发现基于位点的PBE和PBSn1在识别局部软扫描方面特别有效。这些结果验证了重新调整的分支统计数据PBE和PBSn1在检测种群特异性阳性选择方面具有更大的特异性,支持它们在专注于局部适应的基因组研究中的应用。
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来源期刊
Genome Biology and Evolution
Genome Biology and Evolution EVOLUTIONARY BIOLOGY-GENETICS & HEREDITY
CiteScore
5.80
自引率
6.10%
发文量
169
审稿时长
1 months
期刊介绍: About the journal Genome Biology and Evolution (GBE) publishes leading original research at the interface between evolutionary biology and genomics. Papers considered for publication report novel evolutionary findings that concern natural genome diversity, population genomics, the structure, function, organisation and expression of genomes, comparative genomics, proteomics, and environmental genomic interactions. Major evolutionary insights from the fields of computational biology, structural biology, developmental biology, and cell biology are also considered, as are theoretical advances in the field of genome evolution. GBE’s scope embraces genome-wide evolutionary investigations at all taxonomic levels and for all forms of life — within populations or across domains. Its aims are to further the understanding of genomes in their evolutionary context and further the understanding of evolution from a genome-wide perspective.
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