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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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8051128/
https://www.ncbi.nlm.nih.gov/pubmed/33863366
http://dx.doi.org/10.1186/s13059-021-02316-z