Cargando…
Structural Variation Evolution at the 15q11-q13 Disease-Associated Locus
The impact of segmental duplications on human evolution and disease is only just starting to unfold, thanks to advancements in sequencing technologies that allow for their discovery and precise genotyping. The 15q11-q13 locus is a hotspot of recurrent copy number variation associated with Prader–Wil...
Autores principales: | Paparella, Annalisa, L’Abbate, Alberto, Palmisano, Donato, Chirico, Gerardina, Porubsky, David, Catacchio, Claudia R., Ventura, Mario, Eichler, Evan E., Maggiolini, Flavia A. M., Antonacci, Francesca |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10648317/ https://www.ncbi.nlm.nih.gov/pubmed/37958807 http://dx.doi.org/10.3390/ijms242115818 |
Ejemplares similares
-
Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus
por: Maggiolini, Flavia A. M., et al.
Publicado: (2019) -
Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates
por: Maggiolini, Flavia Angela Maria, et al.
Publicado: (2020) -
A high-resolution map of small-scale inversions in the gibbon genome
por: Mercuri, Ludovica, et al.
Publicado: (2022) -
Single-cell strand sequencing of a macaque genome reveals multiple nested inversions and breakpoint reuse during primate evolution
por: Maggiolini, Flavia Angela Maria, et al.
Publicado: (2020) -
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy
por: Manolakos, Emmanouil, et al.
Publicado: (2011)