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Evaluating potential drug targets through human loss-of-function genetic variation
View ORCID ProfileEric Vallabh Minikel, View ORCID ProfileKonrad J Karczewski, View ORCID ProfileHilary C Martin, View ORCID ProfileBeryl B Cummings, View ORCID ProfileNicola Whiffin, Daniel Rhodes, View ORCID ProfileJessica Alföldi, View ORCID ProfileRichard C Trembath, View ORCID ProfileDavid A van Heel, Mark J Daly, Genome Aggregation Database Production Team, Genome Aggregation Database Consortium, View ORCID ProfileStuart L Schreiber, Daniel G MacArthur
doi: https://doi.org/10.1101/530881
Eric Vallabh Minikel
1Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA
2Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA
3Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, 02115, USA
4Prion Alliance, Cambridge, MA, 02139, USA
Konrad J Karczewski
1Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA
2Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA
Hilary C Martin
5Wellcome Sanger Institute, Hinxton, Cambridgeshire, CB10 1SA, UK
Beryl B Cummings
1Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA
2Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA
3Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA, 02115, USA
Nicola Whiffin
1Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA
6National Heart and Lung Institute and MRC London Institute of Medical Sciences, Imperial College London, London, SW7 2AZ, UK
Daniel Rhodes
7Centre for Translational Bioinformatics, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London and Barts Health NHS Trust, London, EC1M 6BQ, UK
Jessica Alföldi
1Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA
2Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA
Richard C Trembath
8Faculty of Life Sciences and Medicine, King’s College London, London, WC2R 2LS, UK
9Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK
David A van Heel
9Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, E1 2AT, UK
Mark J Daly
1Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA
2Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA
Stuart L Schreiber
1Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA
10Department of Chemistry & Chemical Biology, Harvard University, Cambridge, MA, 02138, USA
Daniel G MacArthur
1Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA
2Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, 02114, USA
Article usage
Posted July 30, 2019.
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, Genome Aggregation Database Consortium, Stuart L Schreiber, Daniel G MacArthur
bioRxiv 530881; doi: https://doi.org/10.1101/530881
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, Genome Aggregation Database Consortium, Stuart L Schreiber, Daniel G MacArthur
bioRxiv 530881; doi: https://doi.org/10.1101/530881
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