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Chunk #34 — Materials and Methods — Expression Score for Annotating SNPs

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Trait-associated SNPs are more likely to be eQTLs: annotation to enhance discovery from GWAS.
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In order to devise a one-dimensional score that summarizes as much of the eQTL signal information as possible for prioritizing GWAS signals according to their “functionality”, we first note that neither the scale of the score nor the distribution of the score for non-functional SNPs are relevant – just the appropriate ranking of SNPs with a function in regulating transcript levels. The building blocks for the SNP score are: po which is the overall smallest eQTL p-value (it can be either cis or trans), pc which is the smallest cis p-value, No which is the overall number of transcripts used in the analysis, and Nc which is the number of cis transcripts (i.e. the number of transcripts annotated to genes in the vicinity of the SNP under investigation). The score we propose:builds on Bonferroni corrections applied separately for trans and cis signals (there are 13,080 transcripts used in the analysis). Note that the scores are truncated at zero.