044-Long-read genome sequencing for rare diseases
This paper explores the evolving landscape of genetic diagnostics, highlighting the current limitations of short-read genome sequencing in identifying the genetic causes of many rare diseases. It introduces long-read whole-genome sequencing (LR-WGS) as a promising advancement, capable of detecting previously undetectable variants, performing haplotype phasing, and analyzing methylation patterns. The text details the benefits of LR-WGS, such as improved structural variant detection and more comprehensive analysis of de novo mutations, while also addressing the challenges in its clinical…
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