{Reference Type}: Journal Article
{Title}: Application of long read sequencing in rare diseases: The longer, the better?
{Author}: Yu SY;Xi YL;Xu FQ;Zhang J;Liu YS;
{Journal}: Eur J Med Genet
{Volume}: 66
{Issue}: 12
{Year}: 2023 Dec
{Factor}: 2.465
{DOI}: 10.1016/j.ejmg.2023.104871
{Abstract}: 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.