Next generation cytogenetics: genome-imaging enables comprehensive structural variant detection for 100 constitutional chromosomal aberrations in 85 samples
Tuomo Mantere, Kornelia Neveling, Céline Pebrel‐Richard, Marion Benoist, Guillaume van de Zande, Ellen Kater‐Baats, Imane Baatout, Ronald van Beek, Tony Yammine, Michiel Oorsprong, Daniel Olde-Weghuis, Wed Majdali, Susan Vermeulen, Marc Pauper, Aziza Lebbar, , Laïla El Khattabi
This study evaluates high-resolution optical mapping for detecting chromosomal aberrations in 85 samples, achieving 100% concordance with standard tests for non-centromeric breakpoints.
bioRxiv · Jul 15, 2020 · PreprintGenetics