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Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson’s Disease in African and African Admixed Populations

GP2 ❤️ Open Science 😍

DOI

Last Updated: April 2023

Summary

This is the online repository for the manuscript titled "Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson’s Disease in African and African Admixed Populations". This study represents the first and largest genome-wide assessment of Parkinson’s disease in the African and African admixed populations.

Data Statement

All data was using release 5 GP2 data (access-controlled via single-sign on on amp-pd.org) and 23andMe GWAS summary statistics (available via collaboration with 23andMe).

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Workflow Diagram

Workflow Diagram

Repository Orientation

  • The analyses/ directory includes all analyses discussed in the manuscript
  • The figures/ directory includes all figures and supplemental figures referenced in the manuscript (pending publication)
  • The tables/ directory includes all tables and supplemental tables referenced in the mansucript (pending publication)

Analysis Notebooks

  • Languages: Python, bash, and R
Notebooks Description
00_Prepping_Data Cleaning data and generating covariate files
01_perGroup_GWASes Running GWASes per group (no indels, age, sex, PCs 1-10 as covariates)
02_formatMETAL Format additive summary statistics for meta-GWASes with METAL
03_AAC_ONLY_META Meta-GWAS #1: Looking at African admixed individuals only
04_AFR_ONLY_META Meta-GWAS #2: Looking at African individuals only
05_AFR_AAC_Combined_META Meta-GWAS #3: Looking at African and African admixed individuals
06_Investigate_Hits Investigating the top hits from the joint meta-GWAS
07_BetaBeta_Plots Generating beta-beta plots
08_Zygosity_rs3115534 Get the zygosity distribution of individuals for rs3115534
09_Manhattan_QQ_Plots Visualize the meta-GWASes
10_Compare_GWASes_NallsFooKim Seeing the number of variants from the previously identified 104 that show up in our meta-GWAS
11_PRS_Nalls2019_90_EUR-GLM Conducting PRS on cohorts: Pulling the 90 European variants from Nalls et al., 2019 and using European betas
12_PRS_23andMe_90_EUR-GLM Conducting PRS on cohorts: Pulling the 90 European variants from Nalls et al., 2019 and using AAC betas from 23andMe summary statistics
13_adHoc_Analyses Runs of homozygosity, linear regression for % admixture and age, haplotypes with 1KG, fine-mapping, dominant vs recessive modeling, annotating WGS for T2, conditional analysis, Miami plot compared to Europeans, and GBA Gauchian caller WDL

Figures and Supplemental Figures

(pending publication)


Tables and Supplemental Tables

(pending publication)


Software

Software Version(s) Resource URL RRID Notes
ANNOVAR 2020-06-08 https://www.openbioinformatics.org/annovar/ RRID:SCR_012821 refGene; avsnp150; ljb26_all; gnomad312_genome; used for annotation
coloc 5.1.0.1 https://cran.r-project.org/web/packages/coloc/index.html N/A R package; used for fine-mapping
GBA Gauchian caller 1.0.2 https://github.com/Illumina/Gauchian N/A Illumina's targeted variant caller for the GBA gene based on a whole-genome sequencing (WGS)
METAL 2020-05-05 https://csg.sph.umich.edu//abecasis/Metal/ RRID:SCR_002013 used for meta-analyses
PLINK 1.7 and 1.9 and 2.0 https://www.nitrc.org/projects/plink RRID:SCR_001757 used for genetic analyses
Python Programming Language 3.8 and 3.9 https://www.python.org/ RRID:SCR_008394 pandas; numpy; seaborn; matplotlib; statsmodel; used for general data wrangling/plotting/analyses
R Project for Statistical Computing 4.2 https://www.r-project.org/ RRID:SCR_001905 tidyverse; dplyr; tidyr; ggplot; data.table; used for general data wrangling/plotting/analyses

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All materials for "Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson’s Disease in African and African Admixed Populations"

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