Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus

Human chromosome 15q25 is involved in several disease-associated structural rearrangements, including microdeletions and chromosomal markers with inverted duplications. Using comparative fluorescence in situ hybridization, strand-sequencing, single-molecule, real-time sequencing and Bionano optical...

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Gepubliceerd in:PLoS Genet
Hoofdauteurs: Maggiolini, Flavia A. M., Cantsilieris, Stuart, D’Addabbo, Pietro, Manganelli, Michele, Coe, Bradley P., Dumont, Beth L., Sanders, Ashley D., Pang, Andy Wing Chun, Vollger, Mitchell R., Palumbo, Orazio, Palumbo, Pietro, Accadia, Maria, Carella, Massimo, Eichler, Evan E., Antonacci, Francesca
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Public Library of Science 2019
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Research Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6436712/
https://ncbi.nlm.nih.gov/pubmed/30917130
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008075
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