%0 Journal Article
%T Application of long read sequencing in rare diseases: The longer, the better?
%A Yu SY
%A Xi YL
%A Xu FQ
%A Zhang J
%A Liu YS
%J Eur J Med Genet
%V 66
%N 12
%D 2023 Dec
%M 38832911
%F 2.465
%R 10.1016/j.ejmg.2023.104871
%X Rare diseases encompass a diverse group of genetic disorders that affect a small proportion of the population. Identifying the underlying genetic causes of these conditions presents significant challenges due to their genetic heterogeneity and complexity. Conventional short-read sequencing (SRS) techniques have been widely used in diagnosing and investigating of rare diseases, with limitations due to the nature of short-read lengths. In recent years, long read sequencing (LRS) technologies have emerged as a valuable tool in overcoming these limitations. This minireview provides a concise overview of the applications of LRS in rare disease research and diagnosis, including the identification of disease-causing tandem repeat expansions, structural variations, and comprehensive analysis of pathogenic variants with LRS.