High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing

High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing

Abstract Background High sequence identity between segmental duplications (SDs) can facilitate copy number variants (CNVs) via non-allelic homologous recombination (NAHR). These CNVs are one of the fundamental causes of genomic disorders such as the 3q29 deletion syndrome (del3q29S). There are 21 pr...

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Bibliographic Details
Main Authors: Feyza Yilmaz, Umamaheswaran Gurusamy, Trenell J. Mosley, Pille Hallast, Kwondo Kim, Yulia Mostovoy, Ryan H. Purcell, Tamim H. Shaikh, Michael E. Zwick, Pui-Yan Kwok, Charles Lee, Jennifer G. Mulle
Format: Article
Language:English
Published: BMC 2023-05-01
Series:Genome Medicine
Subjects:
3q29
Structural variations
Genomic disorders
Schizophrenia
NAHR
Copy number variant(s)
Online Access:https://doi.org/10.1186/s13073-023-01184-5

Internet

https://doi.org/10.1186/s13073-023-01184-5

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