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Regulatory variant detection software tools | Genome annotation

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.

Source text:
(Zuo et al. 2015) atSNP: transcription factor binding affinity testing for regulatory SNP detection. Bioinformatics.

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