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To address these limitations, we present a bioinformatics approach, regSNPs, which prioritizes transcriptional regulatory SNPs in LD regions detected by GWAS or linkage studies by integrating existing bioinformatics tool

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According to the HapMap CEU population records, 51 SNPs were in gene promoter regions within this block. Due to the extensive LD within the region, we could not determine which of the 11 candidate genes within this region was contributing to the variation in BMD. The lower the score is, the higher the likelihood that the SNP in question would affect transcriptional regulation related to the disease/phenotype. Endeavour prioritizes candidate genes on the basis of how similar a candidate gene was to a profile derived from genes already known to be involved in the specific biological process (training set


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For each TFBS, we calculated the distributions of matching scores for both binding (fb,tf) and non-binding (fn,tf) events, based on the matching scores with the experimentally determined binding sites (documented in the TRANSFAC database) and randomly selected genomic sequence


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