Article
Long-read RNA sequencing atlas of human microglia isoforms elucidates disease-associated genetic regulation of splicing.
Nature genetics - 1 Mar 2025
Humphrey Jack, Brophy Erica, Kosoy Roman, Zeng Biao, Coccia Elena, Mattei Daniele, Ravi Ashvin, Naito Tatsuhiko, Efthymiou Anastasia G, Navarro Elisa, De Sanctis Claudia, Flores-Almazan Victoria, Muller Benjamin Z, Snijders Gijsje J L J, Allan Amanda, Münch Alexandra, Kitata Reta Birhanu, Kleopoulos Steven P, Argyriou Stathis, Malakates Periklis, Psychogyiou Konstantina, Shao Zhiping, Francoeur Nancy, Tsai Chia-Feng, Gritsenko Marina A, Monroe Matthew E, Paurus Vanessa L, Weitz Karl K, Shi Tujin, Sebra Robert, Liu Tao, de Witte Lot D, Goate Alison M, Bennett David A, Haroutunian Vahram, Hoffman Gabriel E, Fullard John F, Roussos Panos, Raj Towfique
Abstract excerpt
Microglia, the innate immune cells of the central nervous system, have been genetically implicated in multiple neurodegenerative diseases. Mapping the genetics of gene expression in human microglia has identified several loci associated with disease-associated genetic variants in microglia-specific regulatory elements. However, identifying genetic effects on splicing is challenging because of the use of short...
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