Yang 2013 + Lee 2014 clinical exome-sequencing 25-50% diagnostic-yield; modern WGS + RNA-seq + long-read; rare-disease 2025 first-line.
Yang 2013 + Lee 2014 clinical exome-sequencing 25-50% diagnostic-yield; modern WGS + RNA-seq + long-read; rare-disease 2025 first-line.