Evaluating potential drug targets through human loss-of-function genetic variation
Eric Vallabh Minikel, Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel Rhodes, Jessica Alföldi, Richard C. Trembath, David A. van Heel, Mark J. Daly, Genome Aggregation Database Production Team, Irina M. Armean, Eric Banks, Louis Bergelson, Kristian Cibulskis, , Craig Hanis
The paper evaluates potential drug targets using loss-of-function genetic variants from gnomAD, highlighting the importance of deep curation and targeted recall studies for drug discovery.
Nature · May 27, 2020Peer-reviewedGenomics