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本文引用的文献

1
An algorithm for computing the gene tree probability under the multispecies coalescent and its application in the inference of population tree.一种用于计算多物种溯祖模型下基因树概率的算法及其在种群树推断中的应用。
Bioinformatics. 2016 Jun 15;32(12):i225-i233. doi: 10.1093/bioinformatics/btw261.
2
A global reference for human genetic variation.人类遗传变异的全球参考。
Nature. 2015 Oct 1;526(7571):68-74. doi: 10.1038/nature15393.
3
Identifiability of the unrooted species tree topology under the coalescent model with time-reversible substitution processes, site-specific rate variation, and invariable sites.在具有时间可逆替换过程、位点特异性速率变异和不变位点的合并模型下无根物种树拓扑结构的可识别性。
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Bioinformatics. 2015 Mar 1;31(5):691-8. doi: 10.1093/bioinformatics/btu710. Epub 2014 Oct 24.
5
Genome-wide inference of ancestral recombination graphs.全基因组祖先重组图推断
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6
Inference of population splits and mixtures from genome-wide allele frequency data.从全基因组等位基因频率数据推断种群分裂和混合。
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Coalescent-based species tree inference from gene tree topologies under incomplete lineage sorting by maximum likelihood.基于最大似然法的不完全谱系分选下基于基因树拓扑结构的合并种系树推断。
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9
A new method to reconstruct recombination events at a genomic scale.一种新的基因组规模下重组事件重构方法。
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10
New methods for inference of local tree topologies with recombinant SNP sequences in populations.群体中具有重组 SNP 序列的局部树拓扑推断的新方法。
IEEE/ACM Trans Comput Biol Bioinform. 2011 Jan-Mar;8(1):182-93. doi: 10.1109/TCBB.2009.27.

RENT+:一种从存在重组的单倍型推断局部系谱树的改进方法。

RENT+: an improved method for inferring local genealogical trees from haplotypes with recombination.

作者信息

Mirzaei Sajad, Wu Yufeng

出版信息

Bioinformatics. 2017 Apr 1;33(7):1021-1030. doi: 10.1093/bioinformatics/btw735.

DOI:10.1093/bioinformatics/btw735
PMID:28065901
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5860023/
Abstract

MOTIVATION

: Haplotypes from one or multiple related populations share a common genealogical history. If this shared genealogy can be inferred from haplotypes, it can be very useful for many population genetics problems. However, with the presence of recombination, the genealogical history of haplotypes is complex and cannot be represented by a single genealogical tree. Therefore, inference of genealogical history with recombination is much more challenging than the case of no recombination.

RESULTS

: In this paper, we present a new approach called RENT+  for the inference of local genealogical trees from haplotypes with the presence of recombination. RENT+  builds on a previous genealogy inference approach called RENT , which infers a set of related genealogical trees at different genomic positions. RENT+  represents a significant improvement over RENT in the sense that it is more effective in extracting information contained in the haplotype data about the underlying genealogy than RENT . The key components of RENT+  are several greatly enhanced genealogy inference rules. Through simulation, we show that RENT+  is more efficient and accurate than several existing genealogy inference methods. As an application, we apply RENT+  in the inference of population demographic history from haplotypes, which outperforms several existing methods.

AVAILABILITY AND IMPLEMENTATION

: RENT+  is implemented in Java, and is freely available for download from: https://github.com/SajadMirzaei/RentPlus .

CONTACTS

: sajad@engr.uconn.edu or ywu@engr.uconn.edu.

SUPPLEMENTARY INFORMATION

: Supplementary data are available at Bioinformatics online.

摘要

动机

来自一个或多个相关群体的单倍型共享一个共同的系谱历史。如果可以从单倍型中推断出这种共享的系谱,那么它对于许多群体遗传学问题将非常有用。然而,由于存在重组,单倍型的系谱历史很复杂,无法用单个系谱树来表示。因此,在存在重组的情况下推断系谱历史比没有重组的情况更具挑战性。

结果

在本文中,我们提出了一种名为RENT+ 的新方法,用于在存在重组的情况下从单倍型推断局部系谱树。RENT+ 建立在先前一种名为RENT的系谱推断方法之上,RENT可以推断出不同基因组位置的一组相关系谱树。RENT+ 相对于RENT有显著改进,因为它在从单倍型数据中提取有关潜在系谱的信息方面比RENT更有效。RENT+ 的关键组成部分是几个大大增强的系谱推断规则。通过模拟,我们表明RENT+ 比几种现有的系谱推断方法更高效、更准确。作为一个应用,我们将RENT+ 应用于从单倍型推断群体人口历史,其性能优于几种现有方法。

可用性和实现

RENT+ 是用Java实现的,可以从https://github.com/SajadMirzaei/RentPlus免费下载。

联系方式

sajad@engr.uconn.edu或ywu@engr.uconn.edu。

补充信息

补充数据可在《生物信息学》在线获取。