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 that is amenable for scalable measurements in human populations and in experimental settings, including at the single cell level. Our multi-omic analysis in human cohorts in the TOPMed project has identified genetic and environmental effects on molecular variation together with their complex interplay with clinical phenotypes. Furthermore, in this talk I will discuss how CRISPRi silencing of regulatory elements followed by single-cell analysis provides novel insights of mechanisms of genetic associations to complex traits. Altogether, these diverse approaches for integration genome and transcriptome data uncover functional genetic architecture of human traits, and enhances our understanding of both basic biology and precision medicine applications.

Venue: Auditorium BSC- Repsol building

Bioinfo4Women seminars / Hybrid SORS

Venue: Barcelona

Date: 16/02/2023

Time: 16:00 CEST

Host: Salvador Capella

Benchmarking of long-read transcriptomics methods; results and insights from the LRGASP project


Ana Conesa

Research Professor at the Spanish National Research Council (CSIC)

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