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本文引用的文献

1
Sensitive detection of chromosomal segments of distinct ancestry in admixed populations.在混合群体中灵敏检测不同祖先的染色体片段。
PLoS Genet. 2009 Jun;5(6):e1000519. doi: 10.1371/journal.pgen.1000519. Epub 2009 Jun 19.
2
Estimating local ancestry in admixed populations.估计混合群体中的本地祖先。
Am J Hum Genet. 2008 Feb;82(2):290-303. doi: 10.1016/j.ajhg.2007.09.022.
3
Principal components analysis corrects for stratification in genome-wide association studies.主成分分析可校正全基因组关联研究中的分层现象。
Nat Genet. 2006 Aug;38(8):904-9. doi: 10.1038/ng1847. Epub 2006 Jul 23.
4
Reconstructing genetic ancestry blocks in admixed individuals.重建混合个体中的遗传祖先片段。
Am J Hum Genet. 2006 Jul;79(1):1-12. doi: 10.1086/504302. Epub 2006 May 17.
5
Quantile smoothing of array CGH data.阵列比较基因组杂交数据的分位数平滑
Bioinformatics. 2005 Apr 1;21(7):1146-53. doi: 10.1093/bioinformatics/bti148. Epub 2004 Nov 30.
6
The Human Genome Project: lessons from large-scale biology.人类基因组计划:来自大规模生物学的经验教训。
Science. 2003 Apr 11;300(5617):286-90. doi: 10.1126/science.1084564.
7
Genomic control for association studies.关联研究的基因组控制
Biometrics. 1999 Dec;55(4):997-1004. doi: 10.1111/j.0006-341x.1999.00997.x.
8
Estimate of the mutation rate per nucleotide in humans.人类每核苷酸突变率的估计。
Genetics. 2000 Sep;156(1):297-304. doi: 10.1093/genetics/156.1.297.
9
Inference of population structure using multilocus genotype data.利用多位点基因型数据推断群体结构。
Genetics. 2000 Jun;155(2):945-59. doi: 10.1093/genetics/155.2.945.

高效的局域亲缘推断。

Efficient inference of local ancestry.

机构信息

Public Health Sciences, Henry Ford Health System, Detroit, Department of Psychiatry, University of Michigan, Ann Arbor and Center for Health Services Research, Henry Ford Health System, Detroit, MI, USA.

出版信息

Bioinformatics. 2013 Nov 1;29(21):2750-6. doi: 10.1093/bioinformatics/btt488. Epub 2013 Aug 19.

DOI:10.1093/bioinformatics/btt488
PMID:23958727
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3799480/
Abstract

MOTIVATION

The inference of local ancestry of admixed individuals at every locus provides the basis for admixture mapping. Local ancestry information has been used to identify genetic susceptibility loci.

RESULTS

In this study, we developed a statistical method, efficient inference of local ancestry (EILA), which uses fused quantile regression and k-means classifier to infer the local ancestry for admixed individuals. We also conducted a simulation study using HapMap data to evaluate the performance of EILA in comparison with two competing methods, HAPMIX and LAMP. In general, the performance declined as the ancestral distance decreased and the time since admixture increased. EILA performed as well as the other two methods in terms of computational efficiency. In the case of closely related ancestral populations, all the three methods performed poorly. Most importantly, when the ancestral distance was large or moderate, EILA had higher accuracy and lower variation in comparison with the other two methods.

AVAILABILITY AND IMPLEMENTATION

EILA is implemented as an R package, which is freely available from the Comprehensive R Archive Network (http://cran.r-project.org/).

CONTACT

jyangstat@gmail.com.

摘要

动机

推断混合个体在每个基因座的局部祖源为混合映射提供了基础。局部祖源信息已被用于识别遗传易感基因座。

结果

本研究开发了一种统计方法,有效推断局部祖源(EILA),它使用融合分位数回归和 k-均值分类器来推断混合个体的局部祖源。我们还使用 HapMap 数据进行了模拟研究,以评估 EILA 在与两种竞争方法(HAPMIX 和 LAMP)的比较中的性能。一般来说,随着祖先距离的减小和混合时间的增加,性能下降。在计算效率方面,EILA 与其他两种方法一样好。在亲缘关系密切的祖先群体的情况下,所有三种方法的性能都很差。最重要的是,当祖先距离较大或中等时,EILA 与其他两种方法相比,准确性更高,变化更小。

可用性和实施

EILA 实现为一个 R 包,可从 Comprehensive R Archive Network(http://cran.r-project.org/)免费获得。

联系方式

jyangstat@gmail.com。