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Ultrafast and scalable variant annotation and prioritization with big functional genomics data

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 scalabili...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7706736/
https://www.ncbi.nlm.nih.gov/pubmed/33060171
http://dx.doi.org/10.1101/gr.267997.120