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 implementation, including cost, throughput, and the need for standardized protocols and data interpretation tools. Ultimately, the source advocates for the integration of LR-WGS into routine clinical diagnostics to enhance diagnostic yields for rare diseases.
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