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Bioinformatics ; 39(5)2023 05 04.
Artigo em Inglês | MEDLINE | ID: mdl-37137228

RESUMO

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 χ2 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. AVAILABILITY AND IMPLEMENTATION: The source code is available at https://github.com/BergmannLab/PascalX and archived under doi://10.5281/zenodo.4429922. A user manual with usage examples is available at https://bergmannlab.github.io/PascalX/.


Assuntos
Estudo de Associação Genômica Ampla , Bibliotecas , Biblioteca Gênica , Software , Polimorfismo de Nucleotídeo Único
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