Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases
外显子组测序和靶向基因panel：基于158例罕见病患者数据的诊断效能模拟比较
期刊:Genetics and Molecular Biology
影响因子:1.3
doi:10.1590/1678-4685-GMB-2021-0061
Quaio, Caio Robledo D'Angioli Costa; Obando, María José Rivadeneira; Perazzio, Sandro Felix; Dutra, Aurelio Pimenta; Chung, Christine Hsiaoyun; Moreira, Caroline Monaco; Novo Filho, Gil Monteiro; Sacramento-Bobotis, Patricia Rossi; Penna, Michele Groenner; Souza, Rafaela Rogerio Floriano de; Cintra, Vivian Pedigone; Carnavalli, Juliana Emilia Prior; Silva, Rafael Alves da; Santos, Monize Nakamoto Provisor; Paixão, Daniele; Baratela, Wagner Antonio da Rosa; Olivati, Caroline; Spolador, Gustavo Marquezani; Pintao, Maria Carolina; Fornari, Alexandre Ricardo Dos Santos; Burger, Matheus; Ramalho, Rodrigo Fernandes; Pereira, Otavio Jose Eulalio; Ferreira, Elisa Napolitano E; Mitne-Neto, Miguel; Kim, Chong Ae
