非编码DNA中拷贝数变异之间的相关性估计。
Estimation of correlations between copy-number variants in non-coding DNA.
作者信息
Stamoulis Catherine
机构信息
Departments of Neurology and Radiology and the Clinical Research Program, Children’s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA.
出版信息
Annu Int Conf IEEE Eng Med Biol Soc. 2011;2011:5563-6. doi: 10.1109/IEMBS.2011.6091345.
Allelic DNA aberrations across our genome have been associated with normal human genetic heterogeneity as well as with a number of diseases and disorders. When copy-number variations (CNVs) occur in gene-coding regions, known relationships between genes may help us understand correlations between CNVs. However, a large number of these aberrations occur in non-coding, extragenic regions and their correlations may be characterized only quantitatively, e.g., probabilistically, but not functionally. Using a signal processing approach to CNV detection, we identified distributed CNVs in short, non-coding regions across chromosomes and investigated their potential correlations. We estimated predominantly local correlations between CNVs within the same chromosome, and a small number of apparently random long-distance correlations.
我们基因组中的等位基因DNA畸变与正常人类遗传异质性以及多种疾病和紊乱有关。当基因编码区域出现拷贝数变异（CNV）时，已知的基因间关系可能有助于我们理解CNV之间的相关性。然而，这些畸变中有大量发生在非编码的基因外区域，它们之间的相关性可能只能通过定量方式来表征，例如概率性的，但无法从功能角度进行表征。我们采用信号处理方法进行CNV检测，在染色体上的短非编码区域中识别出分布的CNV，并研究了它们之间的潜在相关性。我们主要估计了同一染色体内CNV之间的局部相关性，以及少量明显随机的长距离相关性。
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