cnndel: calling structural variations on low coverage data based on convolutional neural networks

cnndel: calling structural variations on low coverage data based on convolutional neural networks

;Jing Wang;Cheng Ling;Jingyang Gao
spectrochimica acta - part a: molecular and biomolecular spectroscopy 2017 Vol. 2017 pp. -
157
wang2017biomedcnndel:

Abstract

Many structural variations (SVs) detection methods have been proposed due to the popularization of next-generation sequencing (NGS). These SV calling methods use different SV-property-dependent features; however, they all suffer from poor accuracy when running on low coverage sequences. The union of results from these tools achieves fairly high sensitivity but still produces low accuracy on low coverage sequence data. That is, these methods contain many false positives. In this paper, we present CNNdel, an approach for calling deletions from paired-end reads. CNNdel gathers SV candidates reported by multiple tools and then extracts features from aligned BAM files at the positions of candidates. With labeled feature-expressed candidates as a training set, CNNdel trains convolutional neural networks (CNNs) to distinguish true unlabeled candidates from false ones. Results show that CNNdel works well with NGS reads from 26 low coverage genomes of the 1000 Genomes Project. The paper demonstrates that convolutional neural networks can automatically assign the priority of SV features and reduce the false positives efficaciously.

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222647
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10.1155/2017/6375059
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