Arushi Varshney, Nandini Manickam, Peter Orchard, Adelaide Tovar, Zhenhao Zhang, Fan Feng, Michael R Erdos, Narisu Narisu, Christa Ventresca, Kirsten Nishino, Vivek Rai, Heather M Stringham, Anne U Jackson, Tricia Tamsen, Chao Gao, Mao Yang, Olivia I Koues, Joshua D Welch, Charles F Burant, L Keoki Williams, Chris Jenkinson, Ralph A DeFronzo, Luke Norton, Jouko Saramies, Timo A Lakka, Markku Laakso, Jaakko Tuomilehto, Karen L Mohlke, Jacob O Kitzman, Heikki A Koistinen, Jie Liu, Michael Boehnke, Francis S Collins, Laura J Scott, Stephen C J Parker
Skeletal muscle, the largest human organ by weight, is relevant to several polygenic metabolic traits and diseases including type 2 diabetes (T2D). Identifying genetic mechanisms underlying these traits requires pinpointing the relevant cell types, regulatory elements, target genes, and causal variants. Here, we used genetic multiplexing to generate population-scale single nucleus (sn) chromatin accessibility (snATAC-seq) and transcriptome (snRNA-seq) maps across 287 frozen human skeletal muscle biopsies representing 456,880 nuclei...
December 15, 2023: bioRxiv