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MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples

Genomic mosaicism arising from postzygotic mutations has long been associated with cancer and more recently with non-cancer diseases. It has also been detected in healthy individuals including healthy parents of children affected with genetic disorders, highlighting its critical role in the origin o...

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Dettagli Bibliografici
Pubblicato in:Nucleic Acids Res
Autori principali: Huang, August Yue, Zhang, Zheng, Ye, Adam Yongxin, Dou, Yanmei, Yan, Linlin, Yang, Xiaoxu, Zhang, Yuehua, Wei, Liping
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2017
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5449543/
https://ncbi.nlm.nih.gov/pubmed/28132024
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkx024
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