Introduction:

In the context of human health, WGS is a powerful tool for identifying and investigating diseases such as cancers, rare diseases, neurodegenerative diseases, and movement disorders, as well as for routine variant detection and genetic disease testing. Long-read or “third-generation” sequencing (TGS) technologies provide longer reads and it is advantageous for accurately sequencing highly repetitive and complex regions, compared with short-read sequencing. Now TGS technologies are widely used in early non-invasive diagnosis of tumors and genetic mutation detection in genetic diseases. Check the full-text for more information about the applications of long-read whole genome sequencing technology in human disease diagnosis, and explores potential for your research.