Article
Ultrafast and scalable variant annotation and prioritization with big functional genomics data.
Genome research - 1 Dec 2020
Huang Dandan, Yi Xianfu, Zhou Yao, Yao Hongcheng, Xu Hang, Wang Jianhua, Zhang Shijie, Nong Wenyan, Wang Panwen, Shi Lei, Xuan Chenghao, Li Miaoxin, Wang Junwen, Li Weidong, Kwan Hoi Shan, Sham Pak Chung, Wang Kai, Li Mulin Jun
Abstract excerpt
The advances of large-scale genomics studies have enabled compilation of cell type-specific, genome-wide DNA functional elements at high resolution. With the growing volume of functional annotation data and sequencing variants, existing variant annotation algorithms lack the efficiency and scalability to process big genomic data, particularly when annotating whole-genome sequencing variants against a huge...
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