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Article

Characterization of early postzygotic somatic mutations through multi-organ analysis.

Journal of human genetics - 1 Aug 2021

Lee Hyeonjin, Kim Eun Na, Lee Ji-Young, Kim Ji Hun, Oh Ji-Hye, Kim Won-Kyung, Cho Eun Jeong, Lim Jinyeong, Chun Sung-Min, Sung Chang Ohk

Abstract excerpt

Mosaicisms caused by postzygotic mutational events are of increasing interest because of their potential association with various human diseases. Postzygotic somatic mutations have not been well characterized however in terms of their developmental lineage in humans. We conducted whole-genome sequencing (WGS) and targeted deep sequencing in 15 organs across three developmental lineages from a single male fetus...

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PMID: 33611337
DOI: 10.1038/s10038-021-00908-y

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