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Chunk #34 — Discussion

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Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue.
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significantly greater for eQTLs near the ends of genes relative to those further away (Figure 3D), our functional analysis also strongly supports the use of SNP to gene distance as an important contributor to the prior probability that any given SNP is a cis-eQTN [37]. While some eQTNs clearly reside outside these regions (e.g., [46]), the heavy enrichment for reproducible and experimentally tractable eQTNs, coupled with historical evidence supporting disease relevance [47], [48], suggests that the relatively small ‘promoter’- or ‘3′UTR’-ome target spaces may be valuable additions to exome-based disease resequencing efforts [49].