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

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 protein-co...

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Detalles Bibliográficos
Autores principales:	Yilmaz, Feyza, Gurusamy, Umamaheswaran, Mosley, Trenell J., Hallast, Pille, Kim, Kwondo, Mostovoy, Yulia, Purcell, Ryan H., Shaikh, Tamim H., Zwick, Michael E., Kwok, Pui-Yan, Lee, Charles, Mulle, Jennifer G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10170684/ https://www.ncbi.nlm.nih.gov/pubmed/37165454 http://dx.doi.org/10.1186/s13073-023-01184-5

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