MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples - Huang, August Yue; Zhang, Zheng; Ye, Adam Yongxin; Dou, Yanmei; Yan, Linlin; Yang, Xiaoxu; Zhang, Yuehua; Wei, Liping (Nucleic acids research, 2017)
Keywords: Adult; Algorithms; Bayes Theorem; Benchmarking; Breast Neoplasms - genetics; Breast Neoplasms - metabolism; Breast Neoplasms - pathology; Child; Datasets as Topic; Epilepsies, Myoclonic - genetics; Epilepsies, Myoclonic - metabolism; Epilepsies, Myoclonic - pathology; Exome; Female; Genotype; Heterozygote; High-Throughput Nucleotide Sequencing; Homozygote; Humans; Inheritance Patterns; Male; Methods Online; Mosaicism; Polymorphism, Single Nucleotide; Sequence Analysis, DNA; Software