摘要罕见病由于种类繁多、表型复杂多样,致使临床诊断困难.已有的研究表明,大多数罕见病属于遗传性疾病,因此开展此类疾病的遗传学研究和分子诊断显得尤为重要.下一代测序技术(NGS)具有高通量、高敏感性等优势,是目前鉴定罕见病致病基因的主要研究手段.随着NGS技术的不断完善和生物信息学技术的高速发展,近几年来全外显子组测序和靶向目标基因测序正逐步被应用于临床分子诊断领域,为提高罕见病的诊断率,改善治疗效果起到了重要的作用.

abstractsDue to a wide variety of classification and phenotypes,rare diseases are difficult to be diagnosed in the clinical practice Studies have shown that most rare diseases belong to inherited diseases,so it is particularly important to carry out the genetics research and molecular diagnosis.Next generation sequencing (NGS) technology has the advantages of a high throughput,high sensitivity etc,which is the main research means to identify the pathogenic genes of rare diseases at present.With the development of NGS and the bioinformatics technology,in recent years the whole exome sequencing and targeted panel sequencing have been gradually applied to clinical molecular diagnosis,which is important to increase the accuracy of diagnosis and to improve the therapeutic effect of rare diseases.