Application of next generation sequencing technology in molecular diagnosis of rare diseases / 中华检验医学杂志

ABSTRACT

Due 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.