GenomicsJournal of Molecular DiagnosticsPeer-reviewed
Third Generation Cytogenetic Analysis (TGCA): diagnostic application of long-read sequencing.
Pamela Magini, Alessandra Mingrino, Barbara Gega…·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.
5 citations