A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
一种基于细胞类型的框架,用于识别孟德尔遗传调控障碍中的非编码变异。
期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-024-52463-7
Lee, Arthur S; Ayers, Lauren J; Kosicki, Michael; Chan, Wai-Man; Fozo, Lydia N; Pratt, Brandon M; Collins, Thomas E; Zhao, Boxun; Rose, Matthew F; Sanchis-Juan, Alba; Fu, Jack M; Wong, Isaac; Zhao, Xuefang; Tenney, Alan P; Lee, Cassia; Laricchia, Kristen M; Barry, Brenda J; Bradford, Victoria R; Jurgens, Julie A; England, Eleina M; Lek, Monkol; MacArthur, Daniel G; Lee, Eunjung Alice; Talkowski, Michael E; Brand, Harrison; Pennacchio, Len A; Engle, Elizabeth C