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Oxford University Press, Bioinformatics, 5(34), p. 873-874, 2017

DOI: 10.1093/bioinformatics/btx691

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Simulating The Dynamics Of Targeted Capture Sequencing With CapSim

Journal article published in 2017 by Minh Duc Cao ORCID, Devika Ganesamoorthy ORCID, Chenxi Zhou, Lachlan J. M. Coin ORCID
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

Abstract Motivation Targeted sequencing using capture probes has become increasingly popular in clinical applications due to its scalability and cost-effectiveness. The approach also allows for higher sequencing coverage of the targeted regions resulting in better analysis statistical power. However, because of the dynamics of the hybridization process, it is difficult to evaluate the efficiency of the probe design prior to the experiments which are time consuming and costly. Results We developed CapSim, a software package for simulation of targeted sequencing. Given a genome sequence and a set of probes, CapSim simulates the fragmentation, the dynamics of probe hybridization and the sequencing of the captured fragments on Illumina and PacBio sequencing platforms. The simulated data can be used for evaluating the performance of the analysis pipeline, as well as the efficiency of the probe design. Parameters of the various stages in the sequencing process can also be evaluated in order to optimize the experiments. Availability and implementation CapSim is publicly available under BSD license at https://github.com/Devika1/capsim. Supplementary information Supplementary data are available at Bioinformatics online.