Article
Regulatory SNPs: Altered Transcription Factor Binding Sites Implicated in Complex Traits and Diseases.
International journal of molecular sciences - 16 Jun 2021
Degtyareva Arina O, Antontseva Elena V, Merkulova Tatiana I
Abstract excerpt
The vast majority of the genetic variants (mainly SNPs) associated with various human traits and diseases map to a noncoding part of the genome and are enriched in its regulatory compartment, suggesting that many causal variants may affect gene expression. The leading mechanism of action of these SNPs consists in the alterations in the transcription factor binding via creation or disruption of transcription...
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