A Multi-Omics Perspective of Quantitative Trait Loci in Precision Medicine

Trends Genet. 2020 May;36(5):318-336. doi: 10.1016/j.tig.2020.01.009. Epub 2020 Feb 24.

Abstract

Quantitative trait loci (QTL) analysis is an important approach to investigate the effects of genetic variants identified through an increasing number of large-scale, multidimensional 'omics data sets. In this 'big data' era, the research community has identified a significant number of molecular QTLs (molQTLs) and increased our understanding of their effects. Herein, we review multiple categories of molQTLs, including those associated with transcriptome, post-transcriptional regulation, epigenetics, proteomics, metabolomics, and the microbiome. We summarize approaches to identify molQTLs and to infer their causal effects. We further discuss the integrative analysis of molQTLs through a multi-omics perspective. Our review highlights future opportunities to better understand the functional significance of genetic variants and to utilize the discovery of molQTLs in precision medicine.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Epigenomics*
  • Genomics / trends
  • Humans
  • Metabolomics / trends
  • Precision Medicine / trends*
  • Proteomics / trends
  • Quantitative Trait Loci / genetics*
  • Transcriptome / genetics*