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用于检测DNA拷贝数变异的筛选和排序算法

THE SCREENING AND RANKING ALGORITHM TO DETECT DNA COPY NUMBER VARIATIONS.

作者信息

Niu Yue S, Zhang Heping

机构信息

Department of Mathematics University of Arizona Tucson, Arizona 85721 USA

出版信息

Ann Appl Stat. 2012 Sep;6(3):1306-1326. doi: 10.1214/12-AOAS539SUPP.

DOI:10.1214/12-AOAS539SUPP
PMID:24069112
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3779928/
Abstract

DNA Copy number variation (CNV) has recently gained considerable interest as a source of genetic variation that likely influences phenotypic differences. Many statistical and computational methods have been proposed and applied to detect CNVs based on data that generated by genome analysis platforms. However, most algorithms are computationally intensive with complexity at least (), where is the number of probes in the experiments. Moreover, the theoretical properties of those existing methods are not well understood. A faster and better characterized algorithm is desirable for the ultra high throughput data. In this study, we propose the Screening and Ranking algorithm (SaRa) which can detect CNVs fast and accurately with complexity down to (). In addition, we characterize theoretical properties and present numerical analysis for our algorithm.

摘要

DNA拷贝数变异(CNV)作为一种可能影响表型差异的遗传变异来源,最近受到了广泛关注。基于基因组分析平台生成的数据,人们已经提出并应用了许多统计和计算方法来检测CNV。然而,大多数算法计算量很大,复杂度至少为(),其中是实验中探针的数量。此外,这些现有方法的理论特性还没有得到很好的理解。对于超高通量数据,需要一种更快且特征更明确的算法。在本研究中,我们提出了筛选和排序算法(SaRa),该算法能够快速、准确地检测CNV,复杂度低至()。此外,我们还对算法的理论特性进行了描述,并给出了数值分析。

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本文引用的文献

1
RECONSTRUCTING DNA COPY NUMBER BY PENALIZED ESTIMATION AND IMPUTATION.通过惩罚估计和插补重建DNA拷贝数
Ann Appl Stat. 2010 Dec 1;4(4):1749-1773. doi: 10.1214/10-AOAS357.
2
Detecting copy number variations from array CGH data based on a conditional random field model.基于条件随机场模型从阵列比较基因组杂交数据中检测拷贝数变异。
J Bioinform Comput Biol. 2010 Apr;8(2):295-314. doi: 10.1142/s021972001000480x.
3
Copy number variation in human health, disease, and evolution.人类健康、疾病与进化中的拷贝数变异
Annu Rev Genomics Hum Genet. 2009;10:451-81. doi: 10.1146/annurev.genom.9.081307.164217.
4
PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.PennCNV:一种为在全基因组单核苷酸多态性基因分型数据中进行高分辨率拷贝数变异检测而设计的集成隐马尔可夫模型。
Genome Res. 2007 Nov;17(11):1665-74. doi: 10.1101/gr.6861907. Epub 2007 Oct 5.
5
Copy-number variation and association studies of human disease.人类疾病的拷贝数变异与关联研究。
Nat Genet. 2007 Jul;39(7 Suppl):S37-42. doi: 10.1038/ng2080.
6
Spatial smoothing and hot spot detection for CGH data using the fused lasso.使用融合套索对比较基因组杂交数据进行空间平滑和热点检测。
Biostatistics. 2008 Jan;9(1):18-29. doi: 10.1093/biostatistics/kxm013. Epub 2007 May 18.
7
A modified Bayes information criterion with applications to the analysis of comparative genomic hybridization data.一种修正的贝叶斯信息准则及其在比较基因组杂交数据分析中的应用。
Biometrics. 2007 Mar;63(1):22-32. doi: 10.1111/j.1541-0420.2006.00662.x.
8
A faster circular binary segmentation algorithm for the analysis of array CGH data.一种用于分析阵列比较基因组杂交数据的更快的循环二元分割算法。
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9
High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping.使用Infinium全基因组基因分型技术对染色体畸变进行高分辨率基因组分析。
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10
Copy number variation: new insights in genome diversity.拷贝数变异:基因组多样性的新见解
Genome Res. 2006 Aug;16(8):949-61. doi: 10.1101/gr.3677206. Epub 2006 Jun 29.