Article
MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples.
Nucleic acids research - 2 Jun 2017
Huang August Yue, Zhang Zheng, Ye Adam Yongxin, Dou Yanmei, Yan Linlin, Yang Xiaoxu, Zhang Yuehua, Wei Liping
Abstract excerpt
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 of genetic mutations. However, most existing software for the genome-wide identification of single-nucleotide...
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