François Aguet

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Single-nucleus RNA sequencing (sNuc-seq) profiles RNA from tissues that are preserved or cannot be dissociated, but it does not provide high throughput. Here, we develop DroNc-seq: massively parallel sNuc-seq with droplet technology. We profile 39,111 nuclei from mouse and human archived brain samples to demonstrate sensitive, efficient, and unbiased(More)
64 Expression quantitative trait locus (eQTL) mapping provides a powerful means to identify func65 tional variants influencing gene expression and disease pathogenesis. We report the identification 66 of cis-eQTLs from 7,051 post-mortem samples representing 44 tissues and 449 individuals as part 67 of the Genotype-Tissue Expression (GTEx) project. We find a(More)
40 Understanding the genetics of gene regulation provides information on the cellular mechanisms 41 through which genetic variation influences complex traits. Expression quantitative trait loci, or 42 eQTLs, are enriched for polymorphisms that have been found to be associated with disease risk. 43 While most analyses of human data has focused on regulation(More)
A study of the pharmocodynamic effects of rapid infusions of paraaminosalicylic acid (PAS) (Fortier and Favez, 1952) had led to the use of cortisone in the treatment of clinically and radiologically recent pneumonic pulmonary tuberculosis (Delaloye and Favez, 1953). Rapid infusion of PAS1 in the treatment of active tuberculosis of the lungs has caused(More)
X chromosome inactivation (XCI) silences transcription from one of the two X chromosomes in female mammalian cells to balance expression dosage between XX females and XY males. XCI is, however, incomplete in humans: up to one-third of X-chromosomal genes are expressed from both the active and inactive X chromosomes (Xa and Xi, respectively) in female cells,(More)