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Article

Evidence for evolutionary and nonevolutionary forces shaping the distribution of human genetic variants near transcription start sites.

PloS one - 1 Jan 2014

Scala Giovanni, Affinito Ornella, Miele Gennaro, Monticelli Antonella, Cocozza Sergio

Abstract excerpt

The regions surrounding transcription start sites (TSSs) of genes play a critical role in the regulation of gene expression. At the same time, current evidence indicates that these regions are particularly stressed by transcription-related mutagenic phenomena. In this work we performed a genome-wide analysis of the distribution of single nucleotide polymorphisms (SNPs) inside the 10 kb region flanking human TSSs...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25474578
DOI: 10.1371/journal.pone.0114432
PMCID: PMC4256220

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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