Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.

导出 OA

翻译打印收藏纠错

作者： Têmis Maria,Félix ^[1] ; Carolina,Fischinger Moura de Souza ^[2] ; João Bosco,Oliveira ^[3] ; Mariana,Rico-Restrepo ^[4] ; Edmar,Zanoteli ^[5] ; Mayana,Zatz ^[6] ; Roberto,Giugliani ^[2]

作者单位： Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, 90,035-903, Brazil. tfelix@hcpa.edu.br. ^[1] Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, Porto Alegre, 90,035-903, Brazil. ^[2] Hospital Israelita Albert Einstein, São Paulo, Brazil. ^[3] Americas Health Foundation, Bogota, Colombia. ^[4] Faculdade de Medicina, Universidade de São Paulo (FMUSP), São Paulo, Brazil. ^[5] Human Genome and Stem-cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, Brazil. ^[6] House of Rares, Porto Alegre, Rio Grande do Sul, Brazil. ^[7]

关键词 Brazil Diagnosis Exome sequencing Genomics Rare diseases Screening Whole genome sequencing

主题词人类(Humans);巴西(Brazil);少见病(Rare Diseases);基因检测(Genetic Testing)

DOI 10.1186/s12939-022-01809-y

PMID 36639662

发布时间 2023-02-07

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交