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Figure 1 | Genome Medicine

Figure 1

From: Measuring cis-acting regulatory variants genome-wide: new insights into expression genetics and disease susceptibility

Figure 1

Schematic representation of the detection of cis- and trans-regulatory variants and the type of polymorphisms involved in gene expression. eQTL mapping and expression arrays give information about cis- and trans-acting variants, and this can be compared with information from cis-eQTL mapping and AE measurements to determine which variants are cis-acting. These variants come in various forms, as shown at the bottom. To simplify, 'SNP' is taken here as representing all sequence variations; rSNPs affect transcription, and srSNP (structural RNA SNPs) affect RNA processing and translation.

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Genome Medicine

ISSN: 1756-994X

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