Keynote: T Lappalainen. Genetic effects on gene expression dosage скачать в хорошем качестве

Keynote: T Lappalainen. Genetic effects on gene expression dosage

"Genetic effects on gene expression dosage underlying cellular and physiological phenotypes" by Tuuli Lappalainen Abstract: Detailed characterization of molecular and cellular effects of genetic variants is essential for understanding biological processes that underlie genetic associations to disease. A particularly scalable approach has been linking genetic variants to effects in the transcriptome, which is amenable for scalable measurements in human populations and in model systems, including at the single cell level. Here, I will describe recent advances in our long-term work to characterize genetic associations to the transcriptome and other molecular traits, as well as our recent work on CRISPR-based perturbation of gene expression levels in cellular models. Altogether, integrating insights from these diverse approaches uncovers functional genetic architecture of human traits and the molecular and cellular mechanisms that mediate these effects.