Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland
Mitja Kurki, Elmo Saarentaus, Olli P. H. Pietiläinen, Padhraig Gormley, Dennis Lal, Sini Kerminen, Minna Torniainen‐Holm, Eija Hämäläinen, Elisa Rahikkala, Riikka Keski‐Filppula, Merja Rauhala, Satu Korpi-Heikkilä, Jonna Komulainen‐Ebrahim, Heli M. Helander, Päivi Vieira, , Aarno V. Palotie
The paper investigates the genetic contributions to intellectual disability, finding rare variants are more common in severe cases and common variants contribute to all severity levels.
bioRxiv · May 28, 2018 · PreprintGenetics