Accurate and fast detection of copy number variations from short-read whole-genome sequencing with deep convolutional neural network

Jiajin Li, Stephen Hwang, Luke Zhang, Jae Hoon Sul

Keywords: copy number variation, deep learning, convolutional neural network, computational biology, DNA sequencing

Abstract: A copy number variant (CNV) is a type of genetic mutation where a stretch of DNA is lost or duplicated once or multiple times. CNVs play important roles in the development of diseases and complex traits. CNV detection with short-read DNA sequencing technology is challenging because CNVs significantly vary in size and are similar to DNA sequencing artifacts. Many methods have been developed but still yield unsatisfactory results with high computational costs. Here, we propose CNV-Net, a novel approach for CNV detection using a six-layer convolutional neural network. We encode DNA sequencing information into RGB images and train the convolutional neural network with these images. The fitted convolutional neural network can then be used to predict CNVs from DNA sequencing data. We benchmark CNV-Net with two high-quality whole-genome sequencing datasets available from the Genome in a Bottle Consortium, considered as gold standard benchmarking datasets for CNV detection. We demonstrate that CNV-Net is more accurate and efficient in CNV detection than current tools.

One-sentence Summary: Developed CNV-Net to detect CNV, a type of genetic mutation, from short-read DNA sequencing using deep convolutional neural network

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