@article {1642010,
	title = {Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function},
	journal = {Science},
	volume = {376},
	number = {6594},
	year = {2022},
	month = {2022 05 13},
	pages = {eabl4290},
	abstract = {Understanding gene function and regulation in homeostasis and disease requires knowledge of the cellular and tissue contexts in which genes are expressed. Here, we applied four single-nucleus RNA sequencing methods to eight diverse, archived, frozen tissue types from 16 donors and 25 samples, generating a cross-tissue atlas of 209,126 nuclei profiles, which we integrated across tissues, donors, and laboratory methods with a conditional variational autoencoder. Using the resulting cross-tissue atlas, we highlight shared and tissue-specific features of tissue-resident cell populations; identify cell types that might contribute to neuromuscular, metabolic, and immune components of monogenic diseases and the biological processes involved in their pathology; and determine cell types and gene modules that might underlie disease mechanisms for complex traits analyzed by genome-wide association studies.},
	keywords = {Biomarkers, Cell Nucleus, Disease, Genome-Wide Association Study, Humans, Organ Specificity, Phenotype, RNA-Seq},
	issn = {1095-9203},
	doi = {10.1126/science.abl4290},
	author = {Eraslan, G{\"o}kcen and Drokhlyansky, Eugene and Anand, Shankara and Fiskin, Evgenij and Subramanian, Ayshwarya and Slyper, Michal and Wang, Jiali and Van Wittenberghe, Nicholas and Rouhana, John M and Waldman, Julia and Ashenberg, Orr and Lek, Monkol and Dionne, Danielle and Win, Thet Su and Cuoco, Michael S and Kuksenko, Olena and Tsankov, Alexander M and Branton, Philip A and Marshall, Jamie L and Greka, Anna and Getz, Gad and Segr{\`e}, Ayellet V and Aguet, Fran{\c c}ois and Rozenblatt-Rosen, Orit and Ardlie, Kristin G and Regev, Aviv}
}
