摘要
罕见病是人群中发病率低或发病人数少的一类疾病,遗传性罕见病占罕见病的80%。罕见病的诊断一直是临床上的难点。现全面介绍分子基因组检测方法,尤其是近几年发展起来的以基因芯片和二代测序为代表的高通量、全基因组的基因组检测技术,比较各检测平台的特点以及如何合理选择基因检测方法诊断罕见病。
Rare diseases are a group of diseases with either a low prevalence or affecting a small number of individuals in population.About 80% of rare diseases have genetic etiology and molecular diagnosis of rare diseases remains challenging.This review provides overview on genomic testing platforms with focus on recently developed high throughput, genome-wide methods such as next generation sequencing and chromosome microarray, and highlights the difference among testing platforms and applications in diagnosis of rare diseases.
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2017年第8期629-631,共3页
Chinese Journal of Applied Clinical Pediatrics
关键词
罕见病
遗传
分子诊断
基因组
二代测序
Rare diseases
Genetic
Molecular diagnosis
Genomics
Next generation sequencing