Article
Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression.
American journal of human genetics - 6 May 2021
Garg Paras, Martin-Trujillo Alejandro, Rodriguez Oscar L, Gies Scott J, Hadelia Elina, Jadhav Bharati, Jain Miten, Paten Benedict, Sharp Andrew J
Abstract excerpt
Variable number tandem repeats (VNTRs) are composed of large tandemly repeated motifs, many of which are highly polymorphic in copy number. However, because of their large size and repetitive nature, they remain poorly studied. To investigate the regulatory potential of VNTRs, we used read-depth data from Illumina whole-genome sequencing to perform association analysis between copy number of ∼70,000 VNTRs (motif...
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