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Genomic annotation of disease-associated variants reveals shared functional contexts – published online 12/02/2019

Fig from Kyono paper

Yasuhiro Kyono, Jacob O. Kitzman, Stephen C. J. Parker

Genome-wide association studies (GWAS) of diabetes and related glycaemic traits have collectively identified hundreds of independent risk-associated single nucleotide polymorphisms (SNPs). The majority of these loci (>90%) localise to non-coding regions of the genome, strongly suggesting gene regulation as a major driving mechanism. In this issue, Kyono et al (https://doi.org/10.1007/s00125-019-4823-3) review how the generation and analysis of epigenomics datasets have enabled insights into the biology that underlies these regions of genetic predisposition to disease. They review existing and emerging tools that can be used to determine which subset of SNPs might be functionally significant and the context in which their function may emerge. Collectively, recent literature suggests that different diabetes and related trait SNPs scattered throughout the genome may operate through the same transcriptional regulatory pathways. The figures from this review are available as a downloadable slideset.

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