Curated variation benchmarks for challenging medically relevant autosomal genes
针对具有挑战性的医学相关常染色体基因的精选变异基准
期刊:Nature Biotechnology
影响因子:41.7
doi:10.1038/s41587-021-01158-1
Wagner, Justin; Olson, Nathan D; Harris, Lindsay; McDaniel, Jennifer; Cheng, Haoyu; Fungtammasan, Arkarachai; Hwang, Yih-Chii; Gupta, Richa; Wenger, Aaron M; Rowell, William J; Khan, Ziad M; Farek, Jesse; Zhu, Yiming; Pisupati, Aishwarya; Mahmoud, Medhat; Xiao, Chunlin; Yoo, Byunggil; Sahraeian, Sayed Mohammad Ebrahim; Miller, Danny E; Jáspez, David; Lorenzo-Salazar, José M; Muñoz-Barrera, Adrián; Rubio-Rodríguez, Luis A; Flores, Carlos; Narzisi, Giuseppe; Evani, Uday Shanker; Clarke, Wayne E; Lee, Joyce; Mason, Christopher E; Lincoln, Stephen E; Miga, Karen H; Ebbert, Mark T W; Shumate, Alaina; Li, Heng; Chin, Chen-Shan; Zook, Justin M; Sedlazeck, Fritz J