Article
Examining the role of common variants in rare neurodevelopmental conditions.
Nature - 1 Dec 2024
Huang Qin Qin, Wigdor Emilie M, Malawsky Daniel S, Campbell Patrick, Samocha Kaitlin E, Chundru V Kartik, Danecek Petr, Lindsay Sarah, Marchant Thomas, Koko Mahmoud, Amanat Sana, Bonfanti Davide, Sheridan Eamonn, Radford Elizabeth J, Barrett Jeffrey C, Wright Caroline F, Firth Helen V, Warrier Varun, Strudwick Young Alexander, Hurles Matthew E, Martin Hilary C
Abstract excerpt
Although rare neurodevelopmental conditions have a large Mendelian component1, common genetic variants also contribute to risk2,3. However, little is known about how this polygenic risk is distributed among patients with these conditions and their parents nor its interplay with rare variants. It is also unclear whether polygenic background affects risk directly through alleles transmitted from parents to...
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