High-Resolution Variant Profiling of CAH-Associated Genes Using a Long-Read Sequencing Assay
Shanshan Gu, Guoming Chu, Ruining Cai, Xiangzhong Sun, Qiutian Lu, Wanqing Han, Senwen Deng, Xiaohua Wang, Jiale Xiang, Rong Xing He
NanoCAH, a long-read sequencing assay, accurately detects all known variants and resolves haplotypes in CAH-associated genes, outperforming conventional methods.
medRxiv · Oct 24, 2025 · PreprintGenetic & Genomic Medicine