Accurate, scalable, and fully automated inference of species trees from raw genome assemblies using ROADIES

IF 9.4 1区 综合性期刊 Q1 MULTIDISCIPLINARY SCIENCES
Anshu Gupta, Siavash Mirarab, Yatish Turakhia
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引用次数: 0

Abstract

Current genome sequencing initiatives across a wide range of life forms offer significant potential to enhance our understanding of evolutionary relationships and support transformative biological and medical applications. Species trees play a central role in many of these applications; however, despite the widespread availability of genome assemblies, accurate inference of species trees remains challenging due to the limited automation, substantial domain expertise, and computational resources required by conventional methods. To address this limitation, we present ROADIES, a fully automated pipeline to infer species trees starting from raw genome assemblies. In contrast to the prominent approach, ROADIES incorporates a unique strategy of randomly sampling segments of the input genomes to generate gene trees. This eliminates the need for predefining a set of loci, limiting the analyses to a fixed number of genes, and performing the cumbersome gene annotation and/or whole genome alignment steps. ROADIES also eliminates the need to infer orthology by leveraging existing discordance-aware methods that allow multicopy genes. Using the genomic datasets from large-scale sequencing efforts across four diverse life forms (placental mammals, pomace flies, birds, and budding yeasts), we show that ROADIES infers species trees that are comparable in quality to the state-of-the-art studies but in a fraction of the time and effort, including on challenging datasets with rampant gene tree discordance and complex polyploidy. With its speed, accuracy, and automation, ROADIES has the potential to vastly simplify species tree inference, making it accessible to a broader range of scientists and applications.
准确的,可扩展的,和完全自动化的推断物种树从原始基因组组装使用roads
目前针对各种生命形式的基因组测序倡议,为增进我们对进化关系的理解和支持变革性的生物学和医学应用提供了巨大的潜力。物种树在许多这些应用中起着核心作用;然而,尽管基因组组装广泛可用,由于有限的自动化,大量的领域专业知识和传统方法所需的计算资源,物种树的准确推断仍然具有挑战性。为了解决这一限制,我们提出了roades,这是一个完全自动化的管道,从原始基因组组装开始推断物种树。与主流方法相比,roads采用了一种独特的策略,即随机采样输入基因组片段来生成基因树。这消除了预先定义一组基因座,将分析限制在固定数量的基因,以及执行繁琐的基因注释和/或全基因组比对步骤的需要。通过利用现有的允许多拷贝基因的不一致感知方法,roads还消除了推断同源性的需要。利用来自四种不同生命形式(胎盘哺乳动物、粪蝇、鸟类和芽殖酵母)的大规模测序工作的基因组数据集,我们表明,roady推断出的物种树在质量上与最先进的研究相当,但只需要一小部分时间和精力,包括具有严重基因树不一致和复杂多倍性的具有挑战性的数据集。凭借其速度、准确性和自动化程度,ROADIES有可能极大地简化物种树推理,使其能够被更广泛的科学家和应用所使用。
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来源期刊
CiteScore
19.00
自引率
0.90%
发文量
3575
审稿时长
2.5 months
期刊介绍: The Proceedings of the National Academy of Sciences (PNAS), a peer-reviewed journal of the National Academy of Sciences (NAS), serves as an authoritative source for high-impact, original research across the biological, physical, and social sciences. With a global scope, the journal welcomes submissions from researchers worldwide, making it an inclusive platform for advancing scientific knowledge.
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