Introduction

  • An expression quantitative trait locus (eQTL) explains part of the variation in gene expression.
  • Traditional linkage and association mapping can be applied to gene expression traits (transcripts).
  • Genetic variants, such as single nucleotide polymorphisms (SNPs), that underlie eQTL illuminate transcriptional regulation and variation.

Genetic Drivers of Pancreatic Islet Function

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Load and explore the data

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Review Mapping Steps

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Mapping A Single Gene Expression Trait

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Mapping Many Gene Expression Traits

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Creating A Transcriptome Map

  • Transcriptome maps aid in understanding gene expression regulation.

Transcriptome Map of cis and trans eQTL

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Maximum eQTL Peaks and Nearby Genes

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Interpreting qtl2 results

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Mediation Analysis

  • Mediation analysis investigates an intermediary between an independent variable and its effect on a dependent variable.
  • Mediation analysis is used in high-throughput genomics studies to identify molecular phenotypes, such as gene expression or methylation traits, that mediate the effect of genetic variation on disease phenotypes or other outcomes of interest.