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atSNP: transcription factor binding affinity testing for regulatory SNP detection
Author(s) -
Chandler Zuo,
Sunyoung Shin,
Sündüz Keleş
Publication year - 2015
Publication title -
bioinformatics
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btv328
Subject(s) - single nucleotide polymorphism , in silico , snp , computational biology , genetics , biology , dna binding site , tag snp , snp genotyping , gene , genotype , promoter , gene expression
Genome-wide association studies revealed that most disease-associated single nucleotide polymorphisms (SNPs) are located in regulatory regions within introns or in regions between genes. Regulatory SNPs (rSNPs) are such SNPs that affect gene regulation by changing transcription factor (TF) binding affinities to genomic sequences. Identifying potential rSNPs is crucial for understanding disease mechanisms. In silico methods that evaluate the impact of SNPs on TF binding affinities are not scalable for large-scale analysis.

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