ideal-genom 1.0.0

package to run a genotype quality control pipeline

IDEAL-GENOM

IDEAL-GENOM is a comprehensive Python package for automated, reproducible analysis of human genotype data. Currently it has implemented three pipelines: genomic quality control (QC) for case/control studies; processing VCF files after imputation; and genome-wide association studies (GWAS). It wraps years of research at CGE Tübingen, leveraging PLINK 1.9/2.0, GCTA and bcftools and also providing rich reporting and visualizations.

Key Features

• Sample QC: Automated sample-level filtering.
• Ancestry QC: Detection of outlier ancestry samples tailored for homogenous populations and based on 1KG data.
• Variant QC: Automated variant-level (SNPs) filtering.
• VCF Processing: Post-imputation VCF to PLINK filtering, harmonization and conversion to PLINK1.9 binaries.
• GWAS: Generalized Linear Model (GLM) and Generalized Linear Mixed Model (GLMM) and top-hits finding.
• Visualization: QC steps are complemented with high quality plots for reporting. Population structure visualization powered by dimensionality reduction algorithms such as Uniform Manifold Approximation and Projection (UMAP) and t-SNE. Moreover, it has a visualization functionalities to report GWAS' summary statistics.
• Flexible configuration: Modular pipeline steps whose configuration is based on YAML files.
• CLI, Jupyter, and Docker: Run as a command-line tool, in notebooks, or containerized
• Reproducible: All steps, parameters, and outputs are logged.

Installation

You can install IDEAL-GENOM using pip:

pip install ideal-genom

Or clone the repository and install locally:

git clone https://github.com/cge-tuebingen/ideal-genom-qc.git
cd ideal-genom-qc
pip install .

For Docker usage:

docker build -t ideal-genom-qc .
docker run -it ideal-genom-qc

Installed Genomic Tools in Docker

The IDEAL-GENOM Docker image comes pre-installed with the following genomic analysis tools:

• PLINK 1.9: Version 20231211
• PLINK 2.0: Version 20240105 (AVX2 build)
• GCTA: Version 1.95.0 (Linux x86_64)
• BCFtools: Version 1.23

These tools are available in the container's PATH and can be used directly in your pipeline steps or custom scripts. Example usage inside the container:

plink --help
plink2 --help
gcta64 --help
bcftools --help

You can run these commands interactively by starting a shell in the container:

docker run -it ideal-genom-qc /bin/bash

This ensures reproducible and ready-to-use genomic analysis workflows.