Jingcheng Zhang

Telomere-to-telomere CHM13 reference reveals missing truth variants and improves deep learning-based variant calling in long-read sequencing data

Although long‐read sequencing enables comprehensive genomic analysis, its potential is hindered by its reliance on the incomplete GRCh38 reference genome. GRCh38’s unresolved bases, structural errors, and haplotype mosaics introduce reference biases, leading to missed variants and false‐positive calls. This limitatio...