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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Bibliografske podrobnosti
izdano v:PLoS Genet
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2019
Teme:
Research Article
Online dostop: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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