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

Details

Ressource 1Download: 37137228_BIB_D8824EBDC2F5.pdf (186.36 [Ko])
State: Public
Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_D8824EBDC2F5
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
PascalX: a Python library for GWAS gene and pathway enrichment tests.
Journal
Bioinformatics
Author(s)
Krefl D., Brandulas Cammarata A., Bergmann S.
ISSN
1367-4811 (Electronic)
ISSN-L
1367-4803
Publication state
Published
Issued date
04/05/2023
Peer-reviewed
Oui
Volume
39
Number
5
Pages
btad296
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Abstract
'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.
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/.
Keywords
Genome-Wide Association Study, Gene Library, Software, Polymorphism, Single Nucleotide, Libraries
Pubmed
Open Access
Yes
Create date
08/05/2023 11:00
Last modification date
23/01/2024 8:35
Usage data