Article
Quartet DNA reference materials and datasets for comprehensively evaluating germline variant calling performance.
Genome biology - 27 Nov 2023
Ren Luyao, Duan Xiaoke, Dong Lianhua, Zhang Rui, Yang Jingcheng, Gao Yuechen, Peng Rongxue, Hou Wanwan, Liu Yaqing, Li Jingjing, Yu Ying, Zhang Naixin, Shang Jun, Liang Fan, Wang Depeng, Chen Hui, Sun Lele, Hao Lingtong, Scherer Andreas, Nordlund Jessica, Xiao Wenming, Xu Joshua, Tong Weida, Hu Xin, Jia Peng, Ye Kai, Li Jinming, Jin Li, Hong Huixiao, Wang Jing, Fan Shaohua, Fang Xiang, Zheng Yuanting, Shi Leming
Abstract excerpt
BACKGROUND: Genomic DNA reference materials are widely recognized as essential for ensuring data quality in omics research. However, relying solely on reference datasets to evaluate the accuracy of variant calling results is incomplete, as they are limited to benchmark regions. Therefore, it is important to develop DNA reference materials that enable the assessment of variant detection performance across the...
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