statgenetics / ARHL-UKB-Rare-Variants

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Analysis of age-related hearing impairment in white European participants of the UK Biobank

This repository contains notebooks and scripts for reproducing analyses and figures from the paper Rare variant association analysis of UK Biobank exome sequence data reveals new age-related hearing impairment genes, 2022.

Requirements

Please refer to the SoS suite setup for instructions on how to install and set up SoS and jupyter notebooks.

Data

To download the original data used for this paper you would need to be an approved researcher of the UK Biobank. For more information on how to apply please check this website.

Additional workflows

In-house workflows that are of public access were used to analyze the data for this paper. You can access them at our github repository at Columbia Neurology. Specifically workflows under the GWAS, fine-mapping and variant-annotation subfolders are relevant. The analyses in this repository should be reproduced using this version of the bioworkflows repository. Some workflows are still under development and polished versions of them can be found at the xqlt-pipeline repository.

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