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Young et al. examine the complexity of primary human microglia, and identify previously unknown cell states. Using expression quantitative trait locus (eQTL) mapping techniques, they identify 129 genes whose expression in microglia is linked to disease, and show that induced pluripotent stem cell (iPSC) models can be used for functional validation of common genetic mutations in microglia-associated diseases.

Original publication




Journal article


Trends Genet

Publication Date



genetics, microglia, modelling, single-cell RNA sequencing, stem cell, transcriptomics