ERDS-exome: a Hybrid Approach for Copy Number Variant Detection from Whole-exome Sequencing Data.

Renjie Tan,Jixuan Wang,Xiaoliang Wu,Liran Juan, Likun Zheng,Rui Ma,Qing Zhan,Tao Wang,Shuilin Jin,Qinghua Jiang,Yadong Wang

IEEE/ACM Transactions on Computational Biology and Bioinformatics（2020）

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摘要

Copy number variants (CNVs) play important roles in human disease and evolution. With the rapid development of next-generation sequencing technologies, many tools have been developed for inferring CNVs based on whole-exome sequencing (WES) data. However, as a result of the sparse distribution of exons in the genome, the limitations of the WES technique, and the nature of high-level signal noises i...

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关键词

Bioinformatics,Sequential analysis,Hidden Markov models,Genomics,Tools,Matrix decomposition,Sensitivity

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