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信号处理技术在估计人类脑膜瘤DNA拷贝数变异区域中的应用。

Application of signal processing techniques for estimating regions of copy number variations in human meningioma DNA.

作者信息

Stamoulis Catherine, Betensky Rebecca A, Mohapatra Gayatry, Louis David N

机构信息

Department of Neurology, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston, MA 02215, USA.

出版信息

Annu Int Conf IEEE Eng Med Biol Soc. 2009;2009:6973-6. doi: 10.1109/IEMBS.2009.5333851.

DOI:10.1109/IEMBS.2009.5333851
PMID:19964720
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2796201/
Abstract

We applied mode-decomposition and matched-filtering, both signal processing techniques used to increase the signal-to-noise ratio (SNR), to array CGH data of human meningioma DNA, in order to extract genomic regions of copy-number changes potentially associated with tumor progression. DNA segments from different chromosomes were decomposed into a small number of dominant components (modes), and low-amplitude modes were eliminated. The SNR of the entire segment was increased and it was possible to identify local changes in the data spatial structure, previously indistinguishable due to noise. We applied matched-filtering to the mode-reduced signals, using a normal DNA sequences (averaged over 50 healthy donors) as the template. The residual signals from this process were analyzed to identify disease-related copy number changes. We were able to identify distinct local changes at different chromosomes in patients with recurrent versus primary meningiomas.

摘要

我们将模式分解和匹配滤波这两种用于提高信噪比(SNR)的信号处理技术应用于人类脑膜瘤DNA的阵列比较基因组杂交(array CGH)数据,以提取可能与肿瘤进展相关的拷贝数变化的基因组区域。来自不同染色体的DNA片段被分解为少量的主导成分(模式),并消除了低振幅模式。整个片段的信噪比得到了提高,并且能够识别数据空间结构中的局部变化,这些变化之前因噪声而无法区分。我们使用正常DNA序列(对50名健康供体进行平均)作为模板,对模式简化后的信号应用匹配滤波。对该过程产生的残余信号进行分析,以识别与疾病相关的拷贝数变化。我们能够在复发性与原发性脑膜瘤患者的不同染色体上识别出明显的局部变化。

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引用本文的文献

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Estimation of correlations between copy-number variants in non-coding DNA.非编码DNA中拷贝数变异之间的相关性估计。
Annu Int Conf IEEE Eng Med Biol Soc. 2011;2011:5563-6. doi: 10.1109/IEMBS.2011.6091345.

本文引用的文献

1
Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization.突破浪潮:基于微阵列比较基因组杂交技术提高拷贝数变异检测
Genome Biol. 2007;8(10):R228. doi: 10.1186/gb-2007-8-10-r228.
2
Global variation in copy number in the human genome.人类基因组中拷贝数的全球变异。
Nature. 2006 Nov 23;444(7118):444-54. doi: 10.1038/nature05329.
3
BioHMM: a heterogeneous hidden Markov model for segmenting array CGH data.BioHMM:一种用于分割阵列比较基因组杂交数据的异构隐马尔可夫模型。
Bioinformatics. 2006 May 1;22(9):1144-6. doi: 10.1093/bioinformatics/btl089. Epub 2006 Mar 13.
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Detection of gene copy number changes in CGH microarrays using a spatially correlated mixture model.使用空间相关混合模型检测比较基因组杂交微阵列中的基因拷贝数变化。
Bioinformatics. 2006 Apr 15;22(8):911-8. doi: 10.1093/bioinformatics/btl035. Epub 2006 Feb 2.
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Array comparative genomic hybridization and its applications in cancer.阵列比较基因组杂交及其在癌症中的应用。
Nat Genet. 2005 Jun;37 Suppl:S11-7. doi: 10.1038/ng1569.
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Analysis of array CGH data: from signal ratio to gain and loss of DNA regions.阵列比较基因组杂交(array CGH)数据分析:从信号比率到DNA区域的增减
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Genomic microarrays in human genetic disease and cancer.人类遗传疾病和癌症中的基因组微阵列
Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R145-52. doi: 10.1093/hmg/ddg261. Epub 2003 Aug 5.
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Genome scanning with array CGH delineates regional alterations in mouse islet carcinomas.利用阵列比较基因组杂交技术进行基因组扫描可描绘小鼠胰岛癌中的区域改变。
Nat Genet. 2001 Dec;29(4):459-64. doi: 10.1038/ng771.
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Molecular cytogenetics of primary breast cancer by CGH.原发性乳腺癌的比较基因组杂交分子细胞遗传学研究
Genes Chromosomes Cancer. 1998 Mar;21(3):177-84.