Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy
全基因组测序揭示早发性心肌病中的调控、拷贝数和隐秘剪接变异
期刊:npj Genomic Medicine
影响因子:4.7
doi:10.1038/s41525-022-00288-y
Robert Lesurf #, Abdelrahman Said #, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, Guoliang Meng, Michelle Chan Seng Yue, Wilson W L Sung, Bhoo