Megabase length hypermutation accompanies human structural variation at 17p11.2

DNA rearrangements resulting in human genome structural variants (SVs) are caused by diverse mutational mechanisms. We used long- and short-read sequencing technologies to investigate end products of de novo chromosome 17p11.2 rearrangements and query the molecular mechanisms underlying both recurre...

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Udgivet i:Cell
Main Authors: Beck, Christine R., Carvalho, Claudia M.B., Akdemir, Zeynep C., Sedlazeck, Fritz J., Song, Xiaofei, Meng, Qingchang, Hu, Jianhong, Doddapaneni, Harsha, Chong, Zechen, Chen, Edward S., Thornton, Philip C., Liu, Pengfei, Yuan, Bo, Withers, Marjorie, Jhangiani, Shalini N., Kalra, Divya, Walker, Kimberly, English, Adam C., Han, Yi, Chen, Ken, Muzny, Donna M., Ira, Grzegorz, Shaw, Chad A., Gibbs, Richard A., Hastings, P.J., Lupski, James R.
Format: Artigo
Sprog:Inglês
Udgivet: 2019
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6438178/
https://ncbi.nlm.nih.gov/pubmed/30827684
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2019.01.045
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