Genetical Genomics: Spotlight on QTL Hotspots

Genetical genomics aims at identifying quantitative trait loci (QTLs) for molecular traits such as gene expression or protein levels (eQTL and pQTL, respectively). One of the central concepts in genetical genomics is the existence of hotspots [1], where a single polymorphism leads to widespread downstream changes in the expression of distant genes, which are all mapping to the same genomic locus. Several groups have hypothesized that many genetic polymorphisms—e.g., in major regulators or transcription factors—would lead to large and consistent biological effects that would be visible as eQTL hotspots.

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