Coupling metabolomics and exome sequencing reveals graded effects of rare damaging heterozygous variants on gene function and human traits
代谢组学与外显子组测序相结合,揭示了罕见有害杂合变异对基因功能和人类性状的分级影响
期刊:Nature Genetics
影响因子:29
doi:10.1038/s41588-024-01965-7
Scherer, Nora; Fässler, Daniel; Borisov, Oleg; Cheng, Yurong; Schlosser, Pascal; Wuttke, Matthias; Haug, Stefan; Li, Yong; Telkämper, Fabian; Patil, Suraj; Meiselbach, Heike; Wong, Casper; Berger, Urs; Sekula, Peggy; Hoppmann, Anselm; Schultheiss, Ulla T; Mozaffari, Sahar; Xi, Yannan; Graham, Robert; Schmidts, Miriam; Köttgen, Michael; Oefner, Peter J; Knauf, Felix; Eckardt, Kai-Uwe; Grünert, Sarah C; Estrada, Karol; Thiele, Ines; Hertel, Johannes; Köttgen, Anna