Evolutionary genomics

进化基因组学
  • 文章类型: Journal Article
    全球气候变化正在导致环境条件的快速和剧烈变化,对全球生物多样性和几乎所有生命形式构成威胁。林木是陆地生态系统的基础组成部分,在应对和减轻极端气候事件的不利影响方面发挥着至关重要的主导作用,尽管他们自己容易受到这些威胁。因此,了解和监测天然森林如何应对快速气候变化是生物多样性保护的关键优先事项。进化基因组学的最新进展,主要由尖端的多组学技术驱动,提供强大的新工具来解决几个关键问题。这些包括物种和进化单位的精确描述,推断过去的进化史和人口波动,环境适应性变异的识别,和遗传负荷水平的测量。随着应对更极端环境压力的紧迫性增加,了解进化史的基因组学,本地适应,未来应对气候变化,自然森林树木的保护和恢复对于研究全球变化的关系至关重要,人口基因组学和保护生物学。在这次审查中,我们探讨了进化基因组学在使用多组学方法评估全球气候变化影响中的应用,并讨论了育种适应气候的树木的前景。
    Global climate change is leading to rapid and drastic shifts in environmental conditions, posing threats to biodiversity and nearly all life forms worldwide. Forest trees serve as foundational components of terrestrial ecosystems and play a crucial and leading role in combating and mitigating the adverse effects of extreme climate events, despite their own vulnerability to these threats. Therefore, understanding and monitoring how natural forests respond to rapid climate change is a key priority for biodiversity conservation. The recent progress of evolutionary genomics, primarily driven by cutting-edge multi-omics technologies, offer powerful new tools to address several key issues. These include the precise delineation of species and evolutionary units, inference of past evolutionary histories and demographic fluctuations, identification of environmental adaptive variants, and measurement of genetic load levels. As the urgency to deal with more extreme environmental stresses grows, understanding the genomics of evolutionary history, local adaptation, future responses to climate change, and the conservation and restoration of natural forest trees will be critical for research at the nexus of global change, population genomics and conservation biology. In this review, we explore the application of evolutionary genomics to assess the effects of global climate change using multi-omics approaches and discuss the outlook for breeding climate-adapted trees.
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  • 文章类型: Journal Article
    大多数来自人类的大肠杆菌分离物不利用D-蔗糖作为发酵或生长的底物。以前的工作表明,Csc途径允许一些大肠杆菌利用蔗糖进行缓慢生长,并且该途径已经在大肠杆菌W菌株中被工程化以增强蔗糖作为工业应用的原料的用途。一种替代的蔗糖利用途径,Scr,首次在肺炎克雷伯菌中鉴定,并已在一些大肠杆菌和沙门氏菌分离株中报道。我们在这里表明,Scr途径是大肠杆菌系统系B2谱系的一个重要子集的天然,这些谱系缺乏Csc途径,但在蔗糖上快速生长。实验室大肠杆菌菌株来自MG1655(系统群A,ST10)无法利用蔗糖,缺乏scr和csc基因,但是重组质粒携带的scr基因座可以使蔗糖快速生长和发酵。肠杆菌科的基因组分析表明,scr基因座广泛存在于其他肠杆菌科;包括肠杆菌和克雷伯氏菌属。还有一些柠檬酸杆菌和变形杆菌.相比之下,Csc途径主要局限于大肠杆菌,一些志贺氏菌(其中csc基因座通过各种突变变得无功能),和freundii柠檬酸杆菌.对于使用蔗糖作为原料的大肠杆菌和其他肠杆菌科的生物工业应用,更有效的Scr途径可能比Csc途径具有更大的潜力。
    Most Escherichia coli isolates from humans do not utilize D-sucrose as a substrate for fermentation or growth. Previous work has shown that the Csc pathway allows some E. coli to utilize sucrose for slow growth, and this pathway has been engineered in E. coli W strains to enhance use of sucrose as a feedstock for industrial applications. An alternative sucrose utilization pathway, Scr, was first identified in Klebsiella pneumoniae and has been reported in some E. coli and Salmonella enterica isolates. We show here that the Scr pathway is native to an important subset of E. coli phylogroup B2 lineages that lack the Csc pathway but grow rapidly on sucrose. Laboratory E. coli strains derived from MG1655 (phylogroup A, ST10) are unable to utilize sucrose and lack the scr and csc genes, but a recombinant plasmid-borne scr locus enables rapid growth on and fermentation of sucrose. Genome analyses of Enterobacteriaceae indicate that the scr locus is widespread in other Enterobacteriaceae; including Enterobacter and Klebsiella species, and some Citrobacter and Proteus species. In contrast, the Csc pathway is limited mostly to E. coli, some Shigella species (in which csc loci are rendered non-functional by various mutations), and Citrobacter freundii. The more efficient Scr pathway likely has greater potential than the Csc pathway for bioindustrial applications of E. coli and other Enterobacteriaceae using sucrose as a feedstock.
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  • 文章类型: Journal Article
    近三十年来,平均核苷酸同一性(ANI)分析已在操作上定义细菌中的物种。然而,直到最近,几乎没有人注意使用ANI分析来合理定义种内单位。值得注意的是,最近的一些出版物是朝着这个方向迈出的良好一步。这些种内单位提供的粒度水平将与理解细菌谱系和移动遗传元件的生态进化动态和传播有关。抗生素耐药性,和毒力基因。这些种内单位无疑将推进许多细菌病原体的基因组流行病学。在未来的几年里,我们预计许多研究将实施基于ANI的不同种内单位的定义,如菌株或序列类型,对于许多不同的细菌物种。
    Over almost three decades, average nucleotide identity (ANI) analysis has been instrumental in operationally defining species in bacteria. However, barely any attention has been paid to soundly defining intra-species units employing ANI analyses until recently. Notably, some very recent publications are good steps forward in that direction. The level of granularity provided by these intra-species units will be relevant to understanding the eco-evolutionary dynamics and transmission of bacterial lineages and mobile genetic elements, antibiotic resistance, and virulence genes. These intra-species units will undoubtedly advance the genomic epidemiology of many bacterial pathogens. In the coming years, we anticipate that many studies will implement ANI-based definitions of different intra-species units, such as strains or sequence types, for many different bacterial species.
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  • 文章类型: Journal Article
    性染色体进化是群体遗传学的一个复杂子领域,与常染色体相比,这些染色体应如何快速和适应性地进化尚未解决。现有知识的一个关键限制是只关注少数分类单元,导致不确定观察到的模式是否反映了一般过程,或者是对更广泛研究的进化枝的特质。特别是,雌性异基因(ZW)系统的Z染色体在鸟类中倾向于快速但不适应性进化,而在蝴蝶和飞蛾中,Z染色体倾向于适应性进化,但并不总是比常染色体快。为了理解这两个观察如何适应更广泛的进化模式,我们探索了这两个经过充分研究的进化枝之外的Z染色体进化模式。我们利用公开的高质量基因组,基因表达,人口,和鲑鱼虱子的类群数据,一种重要的水产养殖害虫co足类。我们发现Z染色体比常染色体进化得更快,但是这种效应是由增加的漂移而不是自适应进化驱动的。由于女性生殖失败率高,Z染色体的有效种群规模仅比常染色体略低,但这足以降低作用于Z的半合子选择的效率。这些结果突出了生物体生活史在校准种群遗传预期方面的有用性,并证明了不断扩大的现代公开基因组数据的价值,以帮助解决悬而未决的进化问题。
    Sex chromosome evolution is a complex sub-field of population genetics with unresolved questions about how quickly and adaptively these chromosomes should evolve compared to autosomes. One key limitation to existing knowledge is an intense focus on only a handful of taxa, resulting in uncertainty about whether observed patterns reflect general processes or are idiosyncratic to the more widely-studied clades. In particular, the Z chromosomes of female heterogametic (ZW) systems tend to be quickly but not adaptively evolving in birds, while in butterflies and moths Z chromosomes tend to be evolving adaptively, but not always faster than autosomes. To understand how these two observations fit into broader evolutionary patterns, we explore patterns of Z chromosome evolution outside of these two well-studied clades. We utilize a publicly available high-quality genome, gene expression, population, and outgroup data for the salmon louse Lepeophtheirus salmonis, an important aquacultural pest copepod. We find that the Z chromosome is faster evolving than the autosomes, but that this effect is driven by increased drift rather than adaptive evolution. Due to high rates of female reproductive failure, the Z chromosome exhibits only a slightly lower effective population size than the autosomes which is nonetheless sufficient to decrease efficiency of hemizygous selection acting on the Z. These results highlight the usefulness of organismal life history in calibrating population genetic expectations and demonstrate the value of the ever-expanding wealth of modern publicly available genomic data to help resolve outstanding evolutionary questions.
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  • 文章类型: Journal Article
    乙型肝炎病毒(HBV)基因组的进化变化可以反映其对宿主诱导的选择压力的适应。利用配对的人类外显子组和超深层HBV基因组测序数据从567受影响的个体患有慢性乙型肝炎,我们通过在所有人类遗传变异和病毒突变之间进行"基因组-基因组"关联测试,全面搜索了这一进化过程的特征.我们确定了编码HBV进入受体NTCP(rs2296651,NTCPS267F)的基因中的东亚特异性错义变异与HBVpreS1的受体结合区内的突变之间的显着关联。通过计算机建模和体外preS1-NTCP结合测定,我们观察到,当结合时,相关的HBV突变与NTCP变异体接近,并且一起部分增加与NTCPS267F的结合亲和力.此外,我们在HLA-A限制性T细胞表位中发现了HLA-A变异与病毒突变之间的显著关联.我们在计算机结合预测工具中使用相关HBV突变对HLA呈递的影响,并观察到导致与其同源HLA等位基因的结合亲和力较弱的突变被富集。总的来说,我们的结果表明,HBV逃逸突变的出现可能会在病毒进入肝细胞期间改变HBVPreS1与其细胞受体NTCP之间的相互作用,并证实了HLAI类限制在诱导HBV表位变异中的作用.
    Evolutionary changes in the hepatitis B virus (HBV) genome could reflect its adaptation to host-induced selective pressure. Leveraging paired human exome and ultra-deep HBV genome-sequencing data from 567 affected individuals with chronic hepatitis B, we comprehensively searched for the signatures of this evolutionary process by conducting \"genome-to-genome\" association tests between all human genetic variants and viral mutations. We identified significant associations between an East Asian-specific missense variant in the gene encoding the HBV entry receptor NTCP (rs2296651, NTCP S267F) and mutations within the receptor-binding region of HBV preS1. Through in silico modeling and in vitro preS1-NTCP binding assays, we observed that the associated HBV mutations are in proximity to the NTCP variant when bound and together partially increase binding affinity to NTCP S267F. Furthermore, we identified significant associations between HLA-A variation and viral mutations in HLA-A-restricted T cell epitopes. We used in silico binding prediction tools to evaluate the impact of the associated HBV mutations on HLA presentation and observed that mutations that result in weaker binding affinities to their cognate HLA alleles were enriched. Overall, our results suggest the emergence of HBV escape mutations that might alter the interaction between HBV PreS1 and its cellular receptor NTCP during viral entry into hepatocytes and confirm the role of HLA class I restriction in inducing HBV epitope variations.
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  • 文章类型: Journal Article
    性别通常有不同的健身最佳状态,可能会产生场所内的性冲突,因为每个性别都有一个对另一个性别有益的等位基因的遗传“负荷”。评估基因组冲突的一种策略是不协调地人为选择种群,反对既定的性二态,重新引入减弱的冲突。我们研究了一项长期的人工选择实验,该实验在约350代性不一致的选择过程中逆转了果蝇的性别大小二态性。我们探索形态和基因组变化,以在不一致和一致大小的选择治疗中确定性别之间选择的基因座。尽管整体尺寸发生了重大变化,一致的选择保持了祖先的性二态。然而,不一致的选择以性状特异性的方式改变了大小二态性。我们观察到多个,可能在基因组中进行软选择性扫描,与大小相关的基因显示出选择的迹象。谱系内性别之间的基因组分化模式确定了由性冲突维持的潜在位点。一个不一致的选择谱系显示了男性和女性之间基因组分化的模式,在3L染色体上,与性冲突的维持相一致。我们的结果表明,由于选择不一致,性别之间存在明显的冲突和差异分离等位基因的迹象。
    Sexes often have differing fitness optima, potentially generating intra-locus sexual conflict, as each sex bears a genetic \"load\" of alleles beneficial to the other sex. One strategy to evaluate conflict in the genome is to artificially select populations discordantly against established sexual dimorphism (SD), reintroducing attenuated conflict. We investigate a long-term artificial selection experiment reversing sexual size dimorphism in Drosophila melanogaster during ~350 generations of sexually discordant selection. We explore morphological and genomic changes to identify loci under selection between the sexes in discordantly and concordantly size-selected treatments. Despite substantial changes to overall size, concordant selection maintained ancestral SD. However, discordant selection altered size dimorphism in a trait-specific manner. We observe multiple possible soft selective sweeps in the genome, with size-related genes showing signs of selection. Patterns of genomic differentiation between the sexes within lineages identified potential sites maintained by sexual conflict. One discordant selected lineage shows a pattern of elevated genomic differentiation between males and females on chromosome 3L, consistent with the maintenance of sexual conflict. Our results suggest visible signs of conflict and differentially segregating alleles between the sexes due to discordant selection.
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  • 文章类型: Journal Article
    背景:虽然叶绿体基因组(cpDNA)的大小通常受到反向重复区的扩展和收缩以及重复序列的富集的影响,基因间间隔区(IGSs)似乎在确定蕨科cpDNA的大小中起关键作用。这为深入研究蕨科叶绿体基因组结构的进化提供了机会。这项研究增加了五种蕨科物种,将它们与36个已出版的同行进行比较。
    结果:观察到蕨科非编码区的排列不良,这归因于在翼科cpDNA中广泛存在过长的IGS。这些过长的IGS被确定为影响cpDNA大小变化的主要因素。与非扩展IGS相比,过长的IGS表现出明显较高的GC含量,并且重复序列丰富。物种差异时间估计表明,这些过长的IGS可能在翼科早期辐射期间已经存在。
    结论:这项研究揭示了对遗传变异的新见解,进化史,以及翼科植物cpDNA结构的动态变化,为进一步探索其进化研究提供了基础资源。
    BACKGROUND: While the size of chloroplast genomes (cpDNAs) is often influenced by the expansion and contraction of inverted repeat regions and the enrichment of repeats, it is the intergenic spacers (IGSs) that appear to play a pivotal role in determining the size of Pteridaceae cpDNAs. This provides an opportunity to delve into the evolution of chloroplast genomic structures of the Pteridaceae family. This study added five Pteridaceae species, comparing them with 36 published counterparts.
    RESULTS: Poor alignment in the non-coding regions of the Pteridaceae family was observed, and this was attributed to the widespread presence of overlong IGSs in Pteridaceae cpDNAs. These overlong IGSs were identified as a major factor influencing variations in cpDNA size. In comparison to non-expanded IGSs, overlong IGSs exhibited significantly higher GC content and were rich in repetitive sequences. Species divergence time estimations suggest that these overlong IGSs may have already existed during the early radiation of the Pteridaceae family.
    CONCLUSIONS: This study reveals new insights into the genetic variation, evolutionary history, and dynamic changes in the cpDNA structure of the Pteridaceae family, providing a fundamental resource for further exploring its evolutionary research.
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  • 文章类型: Journal Article
    200多年前,当气候变化的概念出现时,很少有人猜测大气温度升高对生物生命的影响。几十年后,研究清楚地表明,气候变化对地球生命的影响是巨大的,正在进行,并具有可预见的效果持续到下个世纪。对气候变化的反应已被广泛记录。然而,与进化适应气候变化有关的表型性状的广度尚不清楚.此外,很难确定适应气候变化的表型的遗传和/或表观遗传基础,部分原因是通常不清楚这种变化是否是塑料,遗传,或者两者的某种组合。对气候驱动的选择的适应性反应也与其他驱动遗传变化的过程相互作用。包括人口统计以及由其他因素驱动的选择。在这个特刊中,我们探讨了影响气候变化适应总体结果的因素。我们的贡献解释说,参与气候变化适应的特征不仅包括经典现象,例如范围变化和环境依赖性性别决定,但也经常被忽视的现象,如社会和性冲突和压力荷尔蒙的表达。我们学习如何通过自然和性选择来调节气候驱动的选择,有效地影响关键的适应性相关性状,如后代的生长和生育能力以及进化潜力。最后,我们探索了预测气候变化适应性反应的局限性和机会。这一贡献构成了10项行动的基础,我们认为这些行动将改善对生物体何时以及如何通过基因适应气候变化的预测。我们预计,这个特刊将为气候变化的影响如何从表型发展到基因型提供新的调查,特别是随着方法学越来越多地允许研究人员在现场实验中研究选择。
    When the notion of climate change emerged over 200 years ago, few speculated as to the impact of rising atmospheric temperatures on biological life. Tens of decades later, research clearly demonstrates that the impact of climate change on life on Earth is enormous, ongoing, and with foreseen effects lasting well into the next century. Responses to climate change have been widely documented. However, the breadth of phenotypic traits involved with evolutionary adaptation to climate change remains unclear. In addition, it is difficult to identify the genetic and/or epigenetic bases of phenotypes adaptive to climate change, in part because it often is not clear whether this change is plastic, genetic, or some combination of the two. Adaptive responses to climate-driven selection also interact with other processes driving genetic changes in general, including demography as well as selection driven by other factors. In this Special Issue, we explore the factors that will impact the overall outcome of climate change adaptation. Our contributions explain that traits involved in climate change adaptation include not only classic phenomena, such as range shifts and environmentally dependent sex determination, but also often overlooked phenomena such as social and sexual conflicts and the expression of stress hormones. We learn how climate-driven selection can be mediated via both natural and sexual selection, effectively influencing key fitness-related traits such as offspring growth and fertility as well as evolutionary potential. Finally, we explore the limits and opportunities for predicting adaptive responses to climate change. This contribution forms the basis of 10 actions that we believe will improve predictions of when and how organisms may adapt genetically to climate change. We anticipate that this Special Issue will inform novel investigations into how the effects of climate change unfold from phenotypes to genotypes, particularly as methodologies increasingly allow researchers to study selection in field experiments.
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  • 文章类型: Journal Article
    Colpoda是世界性的单细胞真核生物,主要居住在土壤中并有益于植物生长,但是它们仍然是纤毛原生动物领域中遗传学和基因组学中了解最少的分类单元之一。这里,我们研究了六个Colpoda物种的从头组装的有丝分裂基因组的结构,使用长读数测序,总共涉及36个新分离的天然菌株。有丝分裂基因组的大小从43到63kbp,通常包含28-33个蛋白质编码基因。它们具有可变的端粒和中心重复序列的线性结构,从西藏分离出的一种Colpodaelliotti菌株在所有研究的纤毛虫中具有最长的端粒。系统学分析表明,Colpoda物种在3.26亿年前开始分化,最终演变成两个不同的群体。共线性分析还揭示了显著的基因组差异和缺乏长的共线块。最显着的特征之一是不同Colpoda物种的线粒体基因组之间异常高水平的基因重排,以基因丢失事件为主。对天然菌株的群体水平有丝分裂基因组学分析也显示出高度的序列差异,无论地理距离如何,但是基因序列在物种中仍然高度保守,为Colpoda物种提供了新的物种鉴定标准。此外,我们在三种Colpoda物种的大多数菌株中确定了潜在的异质位点,尽管没有明显的重组信号来解释这种异质性。这项全面的研究系统地揭示了这些古老且具有生态意义的Colpoda纤毛虫的有丝分裂基因组结构和进化,从而为更深入地了解单细胞真核生物的进化奠定了基础。IMPORTANCEColpoda,土壤中最普遍的纤毛原生动物之一,对他们的遗传学和进化知之甚少。我们的研究揭示了由基因丢失事件主导的极端线粒体基因重排,可能导致Colpoda有丝分裂基因组的精简。令人惊讶的是,虽然种间重排比比皆是,我们的种群水平的有丝分裂基因组学研究揭示了物种内保守的基因顺序,提供了一个潜在的新的识别标准。系统基因组分析追踪了他们超过3.26亿年的血统,揭示了两个不同的群体。大量的基因组差异可能与缺乏延伸的共线嵌段和宽松的纯化选择有关。本研究系统地揭示了Colpoda纤毛虫丝裂原的结构和进化,提供对这些重要土壤微生物的生存和进化的见解。
    Colpoda are cosmopolitan unicellular eukaryotes primarily inhabiting soil and benefiting plant growth, but they remain one of the least understood taxa in genetics and genomics within the realm of ciliated protozoa. Here, we investigate the architecture of de novo assembled mitogenomes of six Colpoda species, using long-read sequencing and involving 36 newly isolated natural strains in total. The mitogenome sizes span from 43 to 63 kbp and typically contain 28-33 protein-coding genes. They possess a linear structure with variable telomeres and central repeats, with one Colpoda elliotti strain isolated from Tibet harboring the longest telomeres among all studied ciliates. Phylogenomic analyses reveal that Colpoda species started to diverge more than 326 million years ago, eventually evolving into two distinct groups. Collinearity analyses also reveal significant genomic divergences and a lack of long collinear blocks. One of the most notable features is the exceptionally high level of gene rearrangements between mitochondrial genomes of different Colpoda species, dominated by gene loss events. Population-level mitogenomic analysis on natural strains also demonstrates high sequence divergence, regardless of geographic distance, but the gene order remains highly conserved within species, offering a new species identification criterion for Colpoda species. Furthermore, we identified underlying heteroplasmic sites in the majority of strains of three Colpoda species, albeit without a discernible recombination signal to account for this heteroplasmy. This comprehensive study systematically unveils the mitogenomic structure and evolution of these ancient and ecologically significant Colpoda ciliates, thus laying the groundwork for a deeper understanding of the evolution of unicellular eukaryotes.IMPORTANCEColpoda, one of the most widespread ciliated protozoa in soil, are poorly understood in regard to their genetics and evolution. Our research revealed extreme mitochondrial gene rearrangements dominated by gene loss events, potentially leading to the streamlining of Colpoda mitogenomes. Surprisingly, while interspecific rearrangements abound, our population-level mitogenomic study revealed a conserved gene order within species, offering a potential new identification criterion. Phylogenomic analysis traced their lineage over 326 million years, revealing two distinct groups. Substantial genomic divergence might be associated with the lack of extended collinear blocks and relaxed purifying selection. This study systematically reveals Colpoda ciliate mitogenome structures and evolution, providing insights into the survival and evolution of these vital soil microorganisms.
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  • 文章类型: Journal Article
    基因组重测序数据集和整个生命树的高质量参考基因组的日益增加的可用性为比较群体基因组研究提供了令人兴奋的机会。然而,巨大的挑战阻碍了数据在不同研究和物种之间的简单重用,由于变体调用管道的可变性,数据质量,以及需要计算密集的重新分析。这里,我们介绍snpArcher,一个灵活而高效的工作流程,设计用于分析非模式生物中的基因组重测序数据。snpArcher提供标准化的变体调用管道,并包括用于变体质量控制的模块,数据可视化,变体过滤,和其他下游分析。在Snakemake中实现,snpArcher是用户友好的,可重复,并设计为与HPC群集和云环境兼容。为了证明这个管道的灵活性,我们将snpArcher应用于来自非哺乳动物脊椎动物的26个公共重测序数据集。这些变异数据集公开托管,以实现未来的比较群体基因组分析。凭借其可扩展性和公共数据集的可用性,snpArcher通过促进大型基因组数据集的快速使用和重用,将有助于更广泛地理解跨物种的遗传变异。
    The increasing availability of genomic resequencing data sets and high-quality reference genomes across the tree of life present exciting opportunities for comparative population genomic studies. However, substantial challenges prevent the simple reuse of data across different studies and species, arising from variability in variant calling pipelines, data quality, and the need for computationally intensive reanalysis. Here, we present snpArcher, a flexible and highly efficient workflow designed for the analysis of genomic resequencing data in nonmodel organisms. snpArcher provides a standardized variant calling pipeline and includes modules for variant quality control, data visualization, variant filtering, and other downstream analyses. Implemented in Snakemake, snpArcher is user-friendly, reproducible, and designed to be compatible with high-performance computing clusters and cloud environments. To demonstrate the flexibility of this pipeline, we applied snpArcher to 26 public resequencing data sets from nonmammalian vertebrates. These variant data sets are hosted publicly to enable future comparative population genomic analyses. With its extensibility and the availability of public data sets, snpArcher will contribute to a broader understanding of genetic variation across species by facilitating the rapid use and reuse of large genomic data sets.
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