Third Generation Cytogenetic Analysis (TGCA): diagnostic application of long-read sequencing.
Pamela Magini, Alessandra Mingrino, Barbara Gega, Gianluca Mattei, Roberto Semeraro, Davide Bolognini, Patrizia Mongelli, Laura Desiderio, Maria Carla Pittalis, Tommaso Pippucci, Alberto Magi
This study demonstrates that long-read sequencing using Oxford Nanopore Technologies can rapidly and accurately detect pathogenic unbalanced structural variants with resolution comparable to traditional methods.
Journal of Molecular Diagnostics · May 5, 2022Peer-reviewedGenomics