Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region

Recurrent rearrangements of Chromosome 8p23.1 are associated with congenital heart defects and developmental delay. The complexity of this region has led to inconsistencies in the current reference assembly, confounding studies of genetic variation. Using comparative sequence-based approaches, we ge...

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Detalles Bibliográficos
Autores principales: Mohajeri, Kiana, Cantsilieris, Stuart, Huddleston, John, Nelson, Bradley J., Coe, Bradley P., Campbell, Catarina D., Baker, Carl, Harshman, Lana, Munson, Katherine M., Kronenberg, Zev N., Kremitzki, Milinn, Raja, Archana, Catacchio, Claudia Rita, Graves, Tina A., Wilson, Richard K., Ventura, Mario, Eichler, Evan E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5088589/
https://www.ncbi.nlm.nih.gov/pubmed/27803192
http://dx.doi.org/10.1101/gr.211284.116

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