IEEE/ACM Transactions on Computational Biology and Bioinformatics

IEEE/ACM Transactions on Computational Biology and Bioinformatics (TCBB) is a bimonthly journal that publishes archival research results related to the algorithmic, mathematical, statistical, and computational methods that are central in bioinformatics and computational biology. Read the full scope of TCBB


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From the November/December 2017 Issue

Copy Number Variations Detection: Unravelling the Problem in Tangible Aspects

By Francisco do Nascimento and Katia S. Guimaraes

Featured article thumbnail image In the midst of the important genomic variants associated to the susceptibility and resistance to complex diseases, Copy Number Variations (CNV) has emerged as a prevalent class of structural variation. Following the flood of next-generation sequencing data, numerous tools publicly available have been developed to provide computational strategies to identify CNV at improved accuracy. This review goes beyond scrutinizing the main approaches widely used for structural variants detection in general, including Split-Read, Paired-End Mapping, Read-Depth, and Assembly-based. In this paper, (1) we characterize the relevant technical details around the detection of CNV, which can affect the estimation of breakpoints and number of copies, (2) we pinpoint the most important insights related to GC-content and mappability biases, and (3) we discuss the paramount caveats in the tools evaluation process. The points brought out in this study emphasize common assumptions, a variety of possible limitations, valuable insights, and directions for desirable contributions to the state-of-the-art in CNV detection tools.

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  • We are pleased to announce that Aidong Zhang, the SUNY Distinguished Professor in the Department of Computer Science and Engineering at the University at Buffalo, The State University of New York, has been named the new Editor-in-Chief of the IEEE/ACM Transactions on Computational Biology and Bioinformatics starting in 2017.

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TCBB is a joint publication of the IEEE Computer Society, Association for Computing Machinery, IEEE Computational Intelligence Society, and the IEEE Engineering in Medicine and Biology Society.

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