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利用最大连锁不平衡块进行种群衰退检测。

Testing for population decline using maximal linkage disequilibrium blocks.

机构信息

Atelier de Bioinformatique, UMR 7205 ISYEB, Sorbonne Université, CNRS, EPHE, Muséum National d'Histoire Naturelle, Paris, France; SMILE (Stochastic Models for the Inference of Life Evolution), UMR 7241 CIRB, Collège de France, CNRS, INSERM, PSL Research University, Paris, France.

SMILE (Stochastic Models for the Inference of Life Evolution), UMR 7241 CIRB, Collège de France, CNRS, INSERM, PSL Research University, Paris, France; Laboratoire de Probabilités, Statistique et Modélisation (LPSM), UMR 8001, CNRS, Sorbonne Université, Paris, France.

出版信息

Theor Popul Biol. 2020 Aug;134:171-181. doi: 10.1016/j.tpb.2020.03.004. Epub 2020 Apr 9.

Abstract

Only 6% of known species have a conservation status. Methods that assess conservation statuses are often based on individual counts and are thus too laborious to be generalized to all species. Population genomics methods that infer past variations in population size are easy to use but limited to the relatively distant past. Here we propose a population genomics approach that tests for recent population decline and may be used to assess species conservation statuses. More specifically, we study Maximal Recombination Free (MRF) blocks, that are segments of a sequence alignment inherited from a common ancestor without recombination. MRF blocks are relatively longer in small than in large populations. We use the distribution of MRF block lengths rescaled by their mean to test for recent population decline. However, because MRF blocks are difficult to detect, we also consider Maximal Linkage Disequilibrium (MLD) blocks, which are runs of single nucleotide polymorphisms compatible with a single tree. We develop a new method capable of inferring a very recent decline (e.g. with a detection power of 50% for populations whose size was halved to N, 0.05 ×N generations ago) from rescaled MLD block lengths. Our framework could serve as a basis for quantitative tools to assess conservation status in a wide range of species.

摘要

已知物种中只有 6%具有保护状况。评估保护状况的方法通常基于个体计数,因此过于繁琐,无法推广到所有物种。推断种群大小过去变化的种群基因组学方法易于使用,但仅限于相对较远的过去。在这里,我们提出了一种种群基因组学方法,用于测试最近的种群下降,并可用于评估物种的保护状况。更具体地说,我们研究了最大重组自由(MRF)块,这些块是来自共同祖先的序列比对中的片段,没有重组。MRF 块在小种群中比在大种群中更长。我们使用通过其平均值缩放的 MRF 块长度分布来测试最近的种群下降。然而,由于 MRF 块难以检测,我们还考虑了最大连锁不平衡(MLD)块,这些块是与单个树兼容的单核苷酸多态性的连续。我们开发了一种新方法,能够从缩放的 MLD 块长度推断出最近的下降(例如,对于大小减半至 N 的种群,具有 50%的检测能力,0.05×N 代前)。我们的框架可以作为评估广泛物种保护状况的定量工具的基础。

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