We profiled human DNA methylation for 987 GTEx samples across nine tissues and characterized how genetic regulation of the methylome, compared with the transcriptome, contributes to GWAS phenotypes. This resource contributes to our understanding of molecular regulatory mechanisms in human tissues and their effects on complex traits.
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GTEx Consortium. The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318–1330 (2020). A seminal paper by the GTEx consortium that characterizes the genetic regulation of gene expression and splicing phenotypes across dozens of tissue sources.
Cano-Gamez, E. & Trynka, G. From GWAS to function: using functional genomics to identify the mechanisms underlying complex diseases. Front. Genet. 11, 424 (2020). A seminal review detailing the approaches, and the main findings, regarding the usage of functional genomics to identify the mechanisms that underlie complex traits.
eGTEx Project. Enhancing GTEx by bridging the gaps between genotype, gene expression, and disease. Nat. Genet. 49, 1664–1670 (2017). An article that describes the motivation beyond the enhanced eGTEx project: to study how genetic differences cascade through molecular phenotypes to impact human health.
Hannon, E. et al. Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci. Nat. Neurosci. 19, 48–54 (2016). A pioneer paper in the identification of mQTL links to traits.
Huan, T. et al. Genome-wide identification of DNA methylation QTLs in whole blood highlights path-ways for cardiovascular disease. Nat. Commun. 10, 4267 (2019). A relevant paper that identifies mQTL effects in trans, and performs multiomic analysis to provide molecular characterization to genotype–phenotype associations.
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This is a summary of: Oliva, M. et al. DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits. Nat. Genet. https://doi.org/10.1038/s41588-022-01248-z (2022).
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DNA methylation provides molecular links underlying complex traits. Nat Genet 55, 12–13 (2023). https://doi.org/10.1038/s41588-022-01249-y