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Towards chronomic medicine: Enrichment and linkage of chronotype markers with rare disease associated genes

2020-08-19 genetic and genomic medicine Title + abstract only
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The role of the circadian clock is becoming apparent in many aspects of human health and disease. Large scale GWAS studies have delivered high numbers of genetic markers for chronotype, which can be used to find links to Mendelian disorders. We used the variants in the 1,000 genomes study to estimate linkage disequilibrium for these chronotype markers. We analysed genes in high linkage disequilibrium with the chronotype markers for enrichment of disease-causing genes, and looked for enrichment o...

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