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Whole-genome sequencing approaches for conservation biology: Advantages, limitations and practical recommendations

机译:保护生物学的全基因组测序方法:优势,限制和实用建议

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摘要

Whole-genome resequencing (WGR) is a powerful method for addressing fundamental evolutionary biology questions that have not been fully resolved using traditional methods. WGR includes four approaches: the sequencing of individuals to a high depth of coverage with either unresolved or resolved haplotypes, the sequencing of population genomes to a high depth by mixing equimolar amounts of unlabelled-individual DNA (Pool-seq) and the sequencing of multiple individuals from a population to a low depth (IcWGR). These techniques require the availability of a reference genome. This, along with the still high cost of shotgun sequencing and the large demand for computing resources and storage, has limited their implementation in nonmodel species with scarce genomic resources and in fields such as conservation biology. Our goal here is to describe the various WGR methods, their pros and cons and potential applications in conservation biology. WGR offers an unprecedented marker density and surveys a wide diversity of genetic variations not limited to single nucleotide polymorphisms (e.g., structural variants and mutations in regulatory elements), increasing their power for the detection of signatures of selection and local adaptation as well as for the identification of the genetic basis of phenotypic traits and diseases. Currently, though, no single WGR approach fulfils all requirements of conservation genetics, and each method has its own limitations and sources of potential bias. We discuss proposed ways to minimize such biases. We envision a not distant future where the analysis of whole genomes becomes a routine task in many nonmodel species and fields including conservation biology.
机译:全基因组重构(WGR)是解决尚未使用传统方法完全解决的基本进化生物学问题的强大方法。 WGR包括四种方法:通过未解决或分辨的单倍型,通过混合等摩尔量的未标记的单独DNA(Pool-SEQ)和倍数测序来测序群体基因组对高深的高深覆盖度。从人口到低深度的个人(ICWGR)。这些技术需要参考基因组的可用性。这与霰弹枪排序的仍然很高以及对计算资源和存储的大需求,并在非典范物种中的实现限制了具有稀缺基因组资源的非典范物种和保护生物学等领域。我们这里的目标是描述各种WGR方法,其优缺点以及保护生物学的潜在应用。 WGR提供前所未有的标记密度,并调查广泛的遗传变异,不限于单核苷酸多态性(例如,结构变体和调节元件中的突变),增加了检测选择和局部适应签名的力量以及鉴定表型特征和疾病的遗传基础。然而,目前,没有单一的WGR方法满足保护遗传学的所有要求,每种方法都有自己的局限性和潜在偏见的来源。我们讨论提出最小化这种偏见的方法。我们设想了一个不远的未来,在整个基因组分析成为许多非典范物种和包括保护生物学的常规的常规任务。

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