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The origins and functional effects of postzygotic mutations throughout the human lifespan

2021-12-21

Abstract excerpt

Postzygotic mutations (PZMs) begin to accrue in the human genome immediately after fertilization, but how and when PZMs affect development and lifetime health remains unclear. To study the origins and functional consequences of PZMs, we generated a multi-tissue atlas of PZMs from 948 donors using the final major release of the Genotype-Tissue Expression (GTEx) project. Nearly half the variation in mutation burden...

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Literature Corpus work
8fcc610e-82a6-5aa8-b2a5-d8c893ea5ab1
DOI
10.1101/2021.12.20.473199
Open publication

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The origins and functional effects of postzygotic mutations throughout the human lifespanDOI 10.1101/2021.12.20.473199
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