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

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
Source :
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100460- (2023)
Publication Year :
2023
Publisher :
Elsevier, 2023.

Subjects

Subjects :
Genetics
QH426-470
Medicine

Details

Language :
English
ISSN :
29497744
Volume :
1
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Genetics in Medicine Open
Publication Type :
Academic Journal
Accession number :
edsdoj.69a2f785a8d3465cb5b9927b924d7535
Document Type :
article
Full Text :
https://doi.org/10.1016/j.gimo.2023.100460