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Statistical challenges associated with detecting copy number variations with next-generation sequencing.与下一代测序检测拷贝数变异相关的统计挑战。
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Hybridization and amplification rate correction for affymetrix SNP arrays.Affymetrix SNP 阵列的杂交和扩增率校正。
BMC Med Genomics. 2012 Jun 12;5:24. doi: 10.1186/1755-8794-5-24.
3
Significance of genome-wide analysis of copy number alterations and UPD in myelodysplastic syndromes using combined CGH - SNP arrays.采用组合 CGH-SNP 阵列对骨髓增生异常综合征进行全基因组拷贝数改变和 UPD 的基因组分析的意义。
Curr Med Chem. 2012;19(22):3739-47. doi: 10.2174/092986712801661121.
4
The impact of errors in copy number variation detection algorithms on association results.拷贝数变异检测算法中的错误对关联结果的影响。
PLoS One. 2012;7(4):e32396. doi: 10.1371/journal.pone.0032396. Epub 2012 Apr 16.
5
CONTRA: copy number analysis for targeted resequencing.对照:靶向重测序的拷贝数分析。
Bioinformatics. 2012 May 15;28(10):1307-13. doi: 10.1093/bioinformatics/bts146. Epub 2012 Apr 2.
6
Chromothripsis and human disease: piecing together the shattering process.染色体重排与人类疾病:拼凑破碎过程。
Cell. 2012 Jan 20;148(1-2):29-32. doi: 10.1016/j.cell.2012.01.006.
7
Read count approach for DNA copy number variants detection.读长计数法用于检测 DNA 拷贝数变异。
Bioinformatics. 2012 Feb 15;28(4):470-8. doi: 10.1093/bioinformatics/btr707. Epub 2011 Dec 23.
8
Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion.使用贝叶斯信息准则检测全基因组测序数据中的拷贝数变异。
Proc Natl Acad Sci U S A. 2011 Nov 15;108(46):E1128-36. doi: 10.1073/pnas.1110574108. Epub 2011 Nov 7.
9
Practical guidelines for interpreting copy number gains detected by high-resolution array in routine diagnostics.高分辨率阵列检测到拷贝数增益的常规诊断中的解读实用指南。
Eur J Hum Genet. 2012 Feb;20(2):161-5. doi: 10.1038/ejhg.2011.174. Epub 2011 Sep 21.
10
Selective genomic copy number imbalances and probability of recurrence in early-stage breast cancer.早期乳腺癌的选择性基因组拷贝数不平衡与复发概率。
PLoS One. 2011;6(8):e23543. doi: 10.1371/journal.pone.0023543. Epub 2011 Aug 12.

使用自相关扫描进行 DNA 拷贝数分析。

Use of autocorrelation scanning in DNA copy number analysis.

机构信息

Department of Bioinformatics and Computational Biology, The University of Texas MD Anderson Cancer Center, Houston, TX 77230, USA and Department of Biophysics, College of Bioinformatics Science and Technology, Harbin Medical University, Harbin, Heilongjiang 150081, China.

出版信息

Bioinformatics. 2013 Nov 1;29(21):2678-82. doi: 10.1093/bioinformatics/btt479. Epub 2013 Sep 16.

DOI:10.1093/bioinformatics/btt479
PMID:24045776
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3799475/
Abstract

MOTIVATION

Data quality is a critical issue in the analyses of DNA copy number alterations obtained from microarrays. It is commonly assumed that copy number alteration data can be modeled as piecewise constant and the measurement errors of different probes are independent. However, these assumptions do not always hold in practice. In some published datasets, we find that measurement errors are highly correlated between probes that interrogate nearby genomic loci, and the piecewise-constant model does not fit the data well. The correlated errors cause problems in downstream analysis, leading to a large number of DNA segments falsely identified as having copy number gains and losses.

METHOD

We developed a simple tool, called autocorrelation scanning profile, to assess the dependence of measurement error between neighboring probes.

RESULTS

Autocorrelation scanning profile can be used to check data quality and refine the analysis of DNA copy number data, which we demonstrate in some typical datasets.

CONTACT

lzhangli@mdanderson.org.

SUPPLEMENTARY INFORMATION

Supplementary data are available at Bioinformatics online.

摘要

动机

从微阵列获得的 DNA 拷贝数改变分析中,数据质量是一个关键问题。通常假设拷贝数改变数据可以建模为分段常数,并且不同探针的测量误差是独立的。然而,这些假设在实践中并不总是成立。在一些已发表的数据集,我们发现探测附近基因组区域的探针之间的测量误差高度相关,而分段常数模型不能很好地拟合数据。相关的误差会在下游分析中引起问题,导致大量的 DNA 片段被错误地识别为具有拷贝数增益和缺失。

方法

我们开发了一种简单的工具,称为自相关扫描谱,用于评估相邻探针之间测量误差的相关性。

结果

自相关扫描谱可用于检查数据质量并改进 DNA 拷贝数数据的分析,我们在一些典型的数据集上进行了演示。

联系方式

lzhangli@mdanderson.org.

补充信息

补充数据可在生物信息学在线获得。