Genetic modifiers and ascertainment drive variable expressivity of complex disorders

• Published in: medRxiv : the preprint server for health sciences
• Main Authors: Jensen, Matthew, Smolen, Corrine, Tyryshkina, Anastasia, Pizzo, Lucilla, Banerjee, Deepro, Oetjens, Matthew, Shimelis, Hermela, Taylor, Cora M, Pounraja, Vijay Kumar, Song, Hyebin, Rohan, Laura, Huber, Emily, El Khattabi, Laila, van de Laar, Ingrid, Tadros, Rafik, Bezzina, Connie, van Slegtenhorst, Marjon, Kammeraad, Janneke, Prontera, Paolo, Caberg, Jean-Hubert, Fraser, Harry, Banka, Siddhartha, Van Dijck, Anke, Schwartz, Charles, Voorhoeve, Els, Callier, Patrick, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Lefebvre, Mathilde, Pope, Kate, Snell, Penny, Boys, Amber, Lockhart, Paul J, Ashfaq, Myla, McCready, Elizabeth, Nowacyzk, Margaret, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Bruccheri, Maria Grazia, Mandarà, Giuseppa Maria Luana, Mari, Francesca, Privitera, Flavia, Longo, Ilaria, Curró, Aurora, Renieri, Alessandra, Keren, Boris, Charles, Perrine, Cuinat, Silvestre, Nizon, Mathilde, Pichon, Olivier, Bénéteau, Claire, Stoeva, Radka, Martin-Coignard, Dominique, Blesson, Sophia, Le Caignec, Cedric, Mercier, Sandra, Vincent, Marie, Martin, Christa, Mannik, Katrin, Reymond, Alexandre, Faivre, Laurence, Sistermans, Erik, Kooy, R Frank, Amor, David J, Romano, Corrado, Andrieux, Joris, Girirajan, Santhosh
• Format: Journal Article
• Language: English
• Published: United States 28.08.2024

Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary variants. Among 132 families with the 16p12.1 deletion, distinct rare and...