Article
The origins and functional effects of postzygotic mutations throughout the human life span.
Science (New York, N.Y.) - 14 Apr 2023
Rockweiler Nicole B, Ramu Avinash, Nagirnaja Liina, Wong Wing H, Noordam Michiel J, Drubin Casey W, Huang Ni, Miller Brian, Todres Ellen Z, Vigh-Conrad Katinka A, Zito Antonino, Small Kerrin S, Ardlie Kristin G, Cohen Barak A, Conrad Donald F
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 remain unclear. To study the origins and functional consequences of PZMs, we generated a multitissue atlas of PZMs spanning 54 tissue and cell types from 948 donors. Nearly half the variation in mutation burden among tissue samples can be explained by...
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