Third Generation Cytogenetic Analysis (TGCA): diagnostic application of long-read sequencing.
Copy number variants (CNVs) play important roles in the pathogenesis of several genetic syndromes. Traditional and molecular karyotyping are considered the first-tier diagnostic tests to detect macroscopic and cryptic deletions/duplications. However, their time-consuming and laborious experimental protocols protract diagnostic times from three to fifteen days. Nanopore sequencing have the ability to reduce time to results for the detection of CNVs wi th the same resolution of current state-of-the-art diagnostic tests.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Pamela Magini, Alessandra Mingrino, Barbara Gega, Gianluca Mattei, Roberto Semeraro, Davide Bolognini, Patrizia Mongelli, Laura Desiderio, Maria Carla Pittalis, Tommaso Pippucci, Alberto Magi Tags: Technical Advance Source Type: research