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, Soyoung Park, Gu-Hwan Kim, Han‐Wook Yoo, Jin‐Ho Choi, Jun 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.
medRxiv · Jul 9, 2025 · PreprintGenetic & Genomic Medicine