Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development

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SUMMARY

    Three somatic mutation analysis categories including early-stage, latestage, and tumor mutations Early-stage mutations were defined as shared mutations in multiple organs that may occur during early embryonic development before gastrulation. Late-stage mutations are restricted to a single organ and are more likely to be induced by clone-forming cells containing late embryonic (post-gastrulation) or post-natal somatic mutations, although a few mutations may be present during the pre-gastrulation stage. After strict filtration and tests for organ specificity using one-sample proportion tests (Fig 1A and Materials and Methods), the . . .

     

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