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CNV detection method optimized for high-resolution arrayCGH by normality test

delete2012-04-01
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PRE
AI
J
Jaegyoon Ahn
Y
Youngmi Yoon
C
Chihyun Park
S
Sanghyun Park *
DOI:10.1016/j.compbiomed.2011.12.015delete
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摘要

摘要

En 中文
High-resolution arrayCGH platform makes it possible to detect small gains and losses which previously could not be measured. However, current CNV detection tools fitted to early low-resolution data are not applicable to larger high-resolution data. When CNV detection tools are applied to high-resolution data, they suffer from high false-positives, which increases validation cost. Existing CNV detection tools also require optimal parameter values. In most cases, obtaining these values is a difficult task. This study developed a CNV detection algorithm that is optimized for high-resolution arrayCGH data. This tool operates up to 1500 times faster than existing tools on a high-resolution arrayCGH of whole human chromosomes which has 42 million probes whose average length is 50 bases, while preserving false positive/negative rates. The algorithm also uses a normality test, thereby removing the need for optimal parameters. To our knowledge, this is the first formulation for CNV detecting problems that results in a near-linear empirical overall complexity for real high-resolution data. (c) 2012 Elsevier Ltd. All rights reserved.
Keyword:
Data mining
Copy number variation
High-resolution arrayCGH
Genome analysis
Normality test
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Computers in Biology and Medicine 封面图
Computers in Biology and Medicine
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6.3
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8.3K
被引数:
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Gachon University
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论文数: 9.3K
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Yonsei University
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