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Article

Landscape of allele-specific transcription factor binding in the human genome.

Nature communications - 12 May 2021

Abramov Sergey, Boytsov Alexandr, Bykova Daria, Penzar Dmitry D, Yevshin Ivan, Kolmykov Semyon K, Fridman Marina V, Favorov Alexander V, Vorontsov Ilya E, Baulin Eugene, Kolpakov Fedor, Makeev Vsevolod J, Kulakovskiy Ivan V

Abstract excerpt

Sequence variants in gene regulatory regions alter gene expression and contribute to phenotypes of individual cells and the whole organism, including disease susceptibility and progression. Single-nucleotide variants in enhancers or promoters may affect gene transcription by altering transcription factor binding sites. Differential transcription factor binding in heterozygous genomic loci provides a natural...

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Identifiers

PMID: 33980847
DOI: 10.1038/s41467-021-23007-0
PMCID: PMC8115691

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