分子基因组检测方法在罕见病分子诊断中的应用

Applications of genomic testing in diagnosis of rare diseases

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.