Functional variation in the human genome
My research aims to characterize molecular and cellular effects of genetic variation in humans. My lab integrates large-scale genome, transcriptome and multi-ome data from human population samples with experimental genome perturbations in cellular models. I have a long track record of contributions to major consortia in human genomics, such as 1000 Genomes, Geuvadis and the GTEx Consortium.
Keywords
Human genetics / functional genomics / gene expression / transcriptomics / genomic technology