Giovanna Weykopf

The paper identifies severe COVID-19 risk variants that modulate enhancer activity in lung cells using functional assays and deep learning.

The paper shows that loop extrusion and enhancer cooperativity independently affect enhancer-driven transcription through synthetic gene activation experiments.

The paper shows that disease-associated variants in alternative protein isoforms can cause structural mutations, emphasizing the need to consider tissue-specific expression and full-length transcripts in variant interpretation.

The paper identifies functional non-coding genetic variants by combining DNase footprints and enhancer RNAs, introducing a framework called FINDER to prioritize variants for functional validation.