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 / Melé, Marta / Maass, Philipp / Ellis, James / Scherer, Stephen / Mital, Seema