Postzygotic single-nucleotide mosaicism in healthy individuals and parents of children with Dravet S

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Postzygotic single-nucleotide mutations (pSNMs) have been studied in cancer and a few other overgrowth human disorders at whole-genome scale and found to play critical roles.However, in clinically unremarkable individuals,pSNMs have never been identified at whole-genome scale largely due to technical difficulties and lack of matched control tissue samples, and thus the genome-wide characteristics of pSNMs remain unknown.
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