Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy

URL:  https://www.nature.com/articles/s41525-022-00288-y

Authors: Lesurf, Robert / Said, Abdelrahman / Akinrinade, Oyediran / Breckpot, Jeroen / Delfosse, Kathleen / Liu, Ting / Yao, Roderick / Persad, Gabrielle / McKenna, Fintan / Noche, Ramil / Oliveros, Winona / Mattioli, Kaia / Shah, Shreya / Miron, Anastasia / Yang, Qian / Meng, Guoliang / Yue, Michelle / Sung, Wilson / Thiruvahindrapuram, Bhooma / Lougheed, Jane / Oechslin, Erwin / Mondal, Tapas / Bergin, Lynn / Smythe, John / Jayappa, Shashank / Rao, Vinay / Shenthar, Jayaprakash / Dhandapany, Perundurai / Semsarian, Christopher / Weintraub, Robert / Bagnall, Richard / Ingles, Jodie / Consortium, Genomics / Ambrose, J. / Arumugam, P. / Baple, E. / Bleda, M. / Boardman-Pretty, F. / Boissiere, J. / Boustred, C. / Brittain, H. / Caulfield, M. / Chan, G. / Craig, C. / Daugherty, L. / de Burca, A. / Devereau, A. / Elgar, G. / Foulger, R. / Fowler, T. / Furió-Tarí, P. / Giess, A. / Hackett, J. / Halai, D. / Hamblin, A. / Henderson, S. / Holman, J. / Hubbard, T. / Ibáñez, K. / Jackson, R. / Jones, L. / Kasperaviciute, D. / Kayikci, M. / Kousathanas, A. / Lahnstein, L. / Lawson, K. / Leigh, S. / Leong, I. / Lopez, F. / Maleady-Crowe, F. / Mason, J. / McDonagh, E. / Moutsianas, L. / Mueller, M. / Murugaesu, N. / Need, A. / Odhams, C. / Orioli, A. / Patch, C. / Perez-Gil, D. / Pereira, M. / Polychronopoulos, D. / Pullinger, J. / Rahim, T. / Rendon, A. / Riesgo-Ferreiro, P. / Rogers, T. / Ryten, M. / Savage, K. / Sawant, K. / Scott, R. / Siddiq, A. / Sieghart, A. / Smedley, D. / Smith, K. / Smith, S. / Sosinsky, A. / Spooner, W. / Stevens, H. / Stuckey, A. / Sultana, R. / Tanguy, M. / Thomas, E. / Thompson, S. / Tregidgo, C. / Tucci, A. / Walsh, E. / Watters, S. / Welland, M. / Williams, E. / Witkowska, K. / Wood, S. / Zarowiecki, M. / Melé, Marta / Maass, Philipp / Ellis, James / Scherer, Stephen / Mital, Seema