Article
Identification of rare disease genes as drivers of common diseases through tissue-specific gene regulatory networks.
Scientific reports - 4 Dec 2024
Bakker Olivier B, Claringbould Annique, Westra Harm-Jan, Wiersma Henry, Boulogne Floranne, Võsa Urmo, Urzúa-Traslaviña Carlos G, Mulcahy Symmons Sophie, Zidan Mahmoud M M, Sadler Marie C, Kutalik Zoltán, Jonkers Iris H, Franke Lude, Deelen Patrick
Abstract excerpt
Genetic variants identified through genome-wide association studies (GWAS) are typically non-coding, exerting small regulatory effects on downstream genes. However, which downstream genes are ultimately impacted and how they confer risk remains mostly unclear. By contrast, variants that cause rare Mendelian diseases are often coding and have a more direct impact on disease development. Here we demonstrate that...
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