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An accurate and powerful method for copy number variation detection

9 Jan 2019

Abstract excerpt

MOTIVATION: Integration of multiple genetic sources for copy number variation detection (CNV) is a powerful approach to improve the identification of variants associated with complex traits. Although it has been shown that the widely used change point based methods can increase statistical power to identify variants, it remains challenging to effectively detect CNVs with weak signals due to the noisy nature of...

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PMID: 30649252
DOI: 10.1093/bioinformatics/bty1041

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