Article

Transcription-induced mutation and ancient gBGC shape the evolution of human transcriptional start sites

2025-11-29

Abstract excerpt

<h4>ABSTRACT</h4> In the human genome, mutation rates vary along genes, yet how their fine-scale structure contributes to gene evolution has remained largely unexplored. Here, we map inherited mutations at single-nucleotide resolution and uncover a striking hypermutation peak at transcription start sites (TSSs). This pattern is observed both in population polymorphisms and in de novo mutations from parent-offspr...

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Literature Corpus work: 9e1629c2-3e5b-5867-84ac-99cdca4a775a
DOI: 10.1101/2025.11.24.690122

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