Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements

Whole-genome oligonucleotide single-nucleotide polymorphism (oligo-SNP) arrays enable simultaneous interrogation of copy number variations (CNVs), copy neutral regions of homozygosity (ROH) and uniparental disomy (UPD). Structural variation in the human genome contributes significantly to genetic va...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Sahoo, Trilochan, Wang, Jia-Chi, Elnaggar, Mohamed M, Sanchez-Lara, Pedro, Ross, Leslie P, Mahon, Loretta W, Hafezi, Katayoun, Deming, Abigail, Hinman, Lynne, Bruno, Yovana, Bartley, James A, Liehr, Thomas, Anguiano, Arturo, Jones, Marilyn
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4266739/
https://ncbi.nlm.nih.gov/pubmed/24713661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.53
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