The origins and functional effects of postzygotic mutations throughout the human life span.
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ABSTRACT:
SUBMITTER: Rockweiler NB
PROVIDER: S-EPMC11246725 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
Publications
The origins and functional effects of postzygotic mutations throughout the human life span.
Rockweiler Nicole B NB Ramu Avinash A Nagirnaja Liina L Wong Wing H WH Noordam Michiel J MJ Drubin Casey W CW Huang Ni N Miller Brian B Todres Ellen Z EZ Vigh-Conrad Katinka A KA Zito Antonino A Small Kerrin S KS Ardlie Kristin G KG Cohen Barak A BA Conrad Donald F DF
Science (New York, N.Y.) 20230414 6641
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 measured technical and biological effects, and 9% can be attributed to donor-specific eff ...[more]
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