Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements

Alu elements, the short interspersed element numbering more than 1 million copies per human genome, can mediate the formation of copy number variants (CNVs) between substrate pairs. These Alu/Alu-mediated rearrangements (AAMRs) can result in pathogenic variants that cause diseases. To investigate th...

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Detalhes bibliográficos
Publicado no:Genome Res
Main Authors: Song, Xiaofei, Beck, Christine R., Du, Renqian, Campbell, Ian M., Coban-Akdemir, Zeynep, Gu, Shen, Breman, Amy M., Stankiewicz, Pawel, Ira, Grzegorz, Shaw, Chad A., Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2018
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Method
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6071635/
https://ncbi.nlm.nih.gov/pubmed/29907612
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.229401.117
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