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This repository holds the data and code for the following manuscript:

Minikel EV, Karczewski KJ, Martin HC, Cummings BB, Whiffin N, Rhodes D, Alfoldi JA, Trembath RC, van Heel DA, Daly MJ, gnomAD Production Team, gnomAD Consortium, Schreiber SL, MacArthur DG. Evaluating drug targets through human loss-of-function genetic variation. Nature May 28, 2020. DOI: 10.1038/s41586-020-2267-z

The R script src/drug_target_lof_analysis.R will reproduce the figures and statistics from the manuscript.

  1. System requirements: We have run this code in R 3.5.1 and its dependencies are sqldf, plotrix, and the exac_2015 repository.
  2. Installation guide: Clone this repository, and edit lines 1 and 7 of the drug_target_lof_analysis.R script to point to the proper paths on your system.
  3. Running the code: Simply run the drug_target_lof_analysis.R script to re-generate all of the figures. It will load all the necessary data from the data directory in this repository itself. Statistics quoted in the manuscript text will appear in script output. The script runs in approximately 3 minutes on a MacBook Air.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.