Article
A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency.
Genome biology - 16 Apr 2021
Jones Wendell, Gong Binsheng, Novoradovskaya Natalia, Li Dan, Kusko Rebecca, Richmond Todd A, Johann Donald J, Bisgin Halil, Sahraeian Sayed Mohammad Ebrahim, Bushel Pierre R, Pirooznia Mehdi, Wilkins Katherine, Chierici Marco, Bao Wenjun, Basehore Lee Scott, Lucas Anne Bergstrom, Burgess Daniel, Butler Daniel J, Cawley Simon, Chang Chia-Jung, Chen Guangchun, Chen Tao, Chen Yun-Ching, Craig Daniel J, Del Pozo Angela, Foox Jonathan, Francescatto Margherita, Fu Yutao, Furlanello Cesare, Giorda Kristina, Grist Kira P, Guan Meijian, Hao Yingyi, Happe Scott, Hariani Gunjan, Haseley Nathan, Jasper Jeff, Jurman Giuseppe, Kreil David Philip, Łabaj Paweł, Lai Kevin, Li Jianying, Li Quan-Zhen, Li Yulong, Li Zhiguang, Liu Zhichao, López Mario Solís, Miclaus Kelci, Miller Raymond, Mittal Vinay K, Mohiyuddin Marghoob, Pabón-Peña Carlos, Parsons Barbara L, Qiu Fujun, Scherer Andreas, Shi Tieliu, Stiegelmeyer Suzy, Suo Chen, Tom Nikola, Wang Dong, Wen Zhining, Wu Leihong, Xiao Wenzhong, Xu Chang, Yu Ying, Zhang Jiyang, Zhang Yifan, Zhang Zhihong, Zheng Yuanting, Mason Christopher E, Willey James C, Tong Weida, Shi Leming, Xu Joshua
Abstract excerpt
BACKGROUND: Oncopanel genomic testing, which identifies important somatic variants, is increasingly common in medical practice and especially in clinical trials. Currently, there is a paucity of reliable genomic reference samples having a suitably large number of pre-identified variants for properly assessing oncopanel assay analytical quality and performance. The FDA-led Sequencing and Quality Control Phase 2...
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