Article

Linking common and rare disease genetics through gene regulatory networks

2021-10-26

Abstract excerpt

Genetic variants identified through genome-wide association studies (GWAS) are typically non-coding and exert small regulatory effects on downstream genes, but which downstream genes are ultimately impacted and how they confer risk remains mostly unclear. Conversely, variants that cause rare Mendelian diseases are often coding and have a more direct impact on disease development. We demonstrate that common and rar...

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Literature Corpus work: e829e9e3-3426-52d5-bfaf-13a14afb23b7
DOI: 10.1101/2021.10.21.21265342

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