High-fidelity long-read sequencing reveals a complex RCCX locus at the single-nucleotide level in Korean patients with congenital adrenal hyperplasia
Seoyeon Kim, Ji‐Hee Yoon, Dohyung Kim…·Ja Hye Kim
This study uses high-fidelity long-read sequencing to resolve the complex RCCX locus in Korean CAH patients at the single-nucleotide level, identifying structural variants and haplotypes.