Evaluation of Genomic Proximity Mapping (GPM) for Detecting Genomic and Chromosomal Structural Variants in Constitutional Disorders
He Fang, Stephen M. Eacker, Yu Wu, Cate Randall Paschal, Mary Elizabeth Wood, Brad Nelson, Alexander Muratov, Yajuan J. Liu
This study evaluates Genomic Proximity Mapping (GPM) for detecting structural variants in constitutional disorders, showing high concordance and resolution compared to standard methods.
Journal of Molecular Diagnostics · Aug 21, 2025Peer-reviewedGenetic & Genomic Medicine