A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Arthur S. Lee, Lauren J. Ayers, Michael Kosicki, Wai Man Chan, Lydia Fozo, Brandon M. Pratt, Thomas E. Collins, Boxun Zhao, Matthew F. Rose, Alba Sanchis‐Juan, Jack M. Fu, Isaac Wong, Xuefang Zhao, Alan P. Tenney, Cassia C. Lee, , Elizabeth C. Engle
The paper develops a cell type-aware framework to identify non-coding variants in Mendelian disorders by integrating single-cell multi-omic data and applying it to congenital cranial dysinnervation disorders.
Nature Communications · Sep 27, 2024Peer-reviewedGenetic & Genomic Medicine