PascalX: a Python library for GWAS gene and pathway enrichment tests

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Abstract

Summary: ‘PascalX’ is a Python library providing fast and accurate tools for mapping SNP-wise GWAS summary statistics. Specifically, it allows for scoring genes and annotated gene sets for enrichment signals based on data from, both, single GWAS and pairs of GWAS. The gene scores take into account the correlation pattern between SNPs. They are based on the cumulative density function of a linear combination of v2 distributed random variables, which can be calculated either approximately or exactly to high precision. Acceleration via multithreading and GPU is supported. The code of PascalX is fully open source and well suited as a base for method development in the GWAS enrichment test context.

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Krefl, D., Cammarata, A. B., & Bergmann, S. (2023). PascalX: a Python library for GWAS gene and pathway enrichment tests. Bioinformatics, 39(5). https://doi.org/10.1093/bioinformatics/btad296

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