Gene family information facilitates variant interpretation and identification of disease-associated genes
Dennis Lal, Patrick May, Kaitlin E. Samocha, Jack A. Kosmicki, Elise Robinson, Rikke Steensbjerre Møller, Roland Krause, Peter Nüernberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Neupert, Juliana Du, Eduardo Pérez‐Palma, Carla Marini, , Mark J. Daly
The paper develops a paralog conservation score to identify disease-associated genes and shows that disease variants are enriched at conserved sites across gene families.
bioRxiv · Jul 5, 2017 · PreprintGenetics