O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes*

Bibliographic Details
Main Authors: Fabiola Quintero-Rivera, Yulia Mostovoy, Philip Boone, Steve Huang, Kiran Garimella, Julian Martinez-Agosto, Bianca Russell, Tera Bowers, Tim De Smet, Stacey Gabriel, James Gusella, Harrison Brand, Michael Talkowski
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423004600