Article
Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair.
Journal of medical genetics - 1 Jul 2014
Dal Gülşah M, Ergüner Bekir, Sağıroğlu Mahmut S, Yüksel Bayram, Onat Onur Emre, Alkan Can, Özçelik Tayfun
Abstract excerpt
BACKGROUND: Human de novo single-nucleotide variation (SNV) rate is estimated to range between 0.82-1.70×10(-8) mutations per base per generation. However, contribution of early postzygotic mutations to the overall human de novo SNV rate is unknown. METHODS: We performed deep whole-genome sequencing (more than 30-fold coverage per individual) of the whole-blood-derived DNA samples of a healthy monozygotic twin...
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