Article
Assessing reproducibility of inherited variants detected with short-read whole genome sequencing.
Genome biology - 3 Jan 2022
Pan Bohu, Ren Luyao, Onuchic Vitor, Guan Meijian, Kusko Rebecca, Bruinsma Steve, Trigg Len, Scherer Andreas, Ning Baitang, Zhang Chaoyang, Glidewell-Kenney Christine, Xiao Chunlin, Donaldson Eric, Sedlazeck Fritz J, Schroth Gary, Yavas Gokhan, Grunenwald Haiying, Chen Haodong, Meinholz Heather, Meehan Joe, Wang Jing, Yang Jingcheng, Foox Jonathan, Shang Jun, Miclaus Kelci, Dong Lianhua, Shi Leming, Mohiyuddin Marghoob, Pirooznia Mehdi, Gong Ping, Golshani Rooz, Wolfinger Russ, Lababidi Samir, Sahraeian Sayed Mohammad Ebrahim, Sherry Steve, Han Tao, Chen Tao, Shi Tieliu, Hou Wanwan, Ge Weigong, Zou Wen, Guo Wenjing, Bao Wenjun, Xiao Wenzhong, Fan Xiaohui, Gondo Yoichi, Yu Ying, Zhao Yongmei, Su Zhenqiang, Liu Zhichao, Tong Weida, Xiao Wenming, Zook Justin M, Zheng Yuanting, Hong Huixiao
Abstract excerpt
BACKGROUND: Reproducible detection of inherited variants with whole genome sequencing (WGS) is vital for the implementation of precision medicine and is a complicated process in which each step affects variant call quality. Systematically assessing reproducibility of inherited variants with WGS and impact of each step in the process is needed for understanding and improving quality of inherited variants from WGS....
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