A verified genomic reference sample for assessing performance of cancer panels detecting small variants of low allele frequency

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...

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Veröffentlicht in:Genome Biol
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2021
Schlagworte:
Research
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8051128/
https://ncbi.nlm.nih.gov/pubmed/33863366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13059-021-02316-z
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