README.md

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

This GitHub repository contains the analysis scripts, notebooks, and codes used for the following publication.

Tanigawa Y, Wainberg M, Karjalainen J, Kiiskinen T, Venkataraman G, Lemmelä S, et al. (2020) Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. PLoS Genet 16(5): e1008682.

Tanigawa, Y. et al. Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma. bioRxiv 677443 (2019) doi:10.1101/677443.

Dataset availability

The genome-wide summary statistics and the results of gene-based burden and dispersion tests are available at NIH’s instance of figshare.

• Tanigawa, Yosuke; Rivas, Manuel (2019): Genome-wide summary statistics used for the analysis described in 'Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma'. figshare. Dataset.
• Tanigawa, Yosuke; Venkataraman, Guhan; Rivas, Manuel (2019): Gene-based test results used for the analysis described in 'Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma'. figshare. Dataset.

Directories

• notebook: this directory contains notebooks and scripts for sub-analyses other than gene-based tests.
• gene_based_test: this directory contains the source code for gene-based tests.
• plots" this directory contains plots obtained from external resources.