DNA methylation provides molecular links underlying complex traits
- PMID: 36593303
- DOI: 10.1038/s41588-022-01249-y
DNA methylation provides molecular links underlying complex traits
Comment on
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DNA methylation QTL mapping across diverse human tissues provides molecular links between genetic variation and complex traits.Nat Genet. 2023 Jan;55(1):112-122. doi: 10.1038/s41588-022-01248-z. Epub 2022 Dec 12. Nat Genet. 2023. PMID: 36510025 Free PMC article.
References
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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. - DOI
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- 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. - DOI
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- 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. - DOI
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- 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. - DOI
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- 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. - DOI
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