Proximity-mapped whole-genome sequencing for characterization of repeat expansions and variants in highly homologous genomic regions
Yuxiang Lin, Li Zhang, Yuzhen Qiang, Lu Yang, Xuefeng Li, Kaiyu Wang
This study evaluates TruPath Genome's ability to characterize repeat expansions and variants in complex genomic regions using archived DNA samples, showing consistent results with orthogonal methods.
medRxiv · Oct 13, 2026 · PreprintGenetic & Genomic Medicine