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Bioinformatics. 2019 Jan 14. doi: 10.1093/bioinformatics/bty1041. [Epub ahead of print]

An Accurate and Powerful Method for Copy Number Variation Detection.

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Department of Epidemiology and Biostatistics, University of South Carolina, Columbia, SC, USA.
Department of Mathematics, University of Arizona, Tucson, AZ, USA.
Department of Quantitative Sciences, Baylor College of Medicine, Houston, TX, USA.
Department of Environmental Health Science, University of South Carolina, Columbia, SC, USA.
Department of Biostatistics, Yale School of Public Health, New Haven, CT, USA.



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 genotyping intensity data. We previously developed modSaRa, a normal mean-based model on a screening and ranking algorithm for copy number variation identification which presented desirable sensitivity with high computational efficiency. To boost statistical power for the identification of variants, here we present a novel improvement that integrates the relative allelic intensity with external information from empirical statistics with modeling, which we called modSaRa2.


Simulation studies illustrated that modSaRa2 markedly improved both sensitivity and specificity over existing methods for analyzing array-based data. The improvement in weak CNV signal detection is the most substantial, while it also simultaneously improves stability when CNV size varies. The application of the new method to a whole genome melanoma dataset identified novel candidate melanoma risk associated deletions on chromosome bands 1p22.2 and duplications on 6p22, 6q25, and 19p13 regions, which may facilitate the understanding of the possible roles of germline copy number variants in the etiology of melanoma.

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Supplementary data are available at Bioinformatics online.

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