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bioRxiv · 10.1101/2024.01.11.575316

Genopyc: a python library for investigating the genomic basis of complex diseases

Gualdi, F.·Oliva, B.·Pinero, J.
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Abstract

MotivationUnderstanding the genetic basis of complex diseases is a paramount challenge in modern genomics. However, current tools often lack the versatility to efficiently analyze the intricate relation-ships between genetic variations and disease outcomes. To address this, we introduce Genopyc, a novel Python library designed for comprehensive investigation of the genetics underlying complex dis-eases. Genopyc offers an extensive suite of functions for heterogeneous data mining and visualization, enabling researchers to delve into and integrate biological information from large-scale genomic da-tasets with ease. ResultsIn this study, we present the Genopyc library through application to real-world genome wide association studies variants. Using Genopyc to investigate variants associated to intervertebral disc degeneration (IDD) enabled a deeper understanding of the potential dysregulated pathways involved in the disease, which can be explored and visualized by exploiting the functionalities featured in the package. Genopyc emerges as a powerful asset for researchers, fostering advancements in the un-derstanding of complex diseases and thus paving the way for more targeted therapeutic interventions. Availability: Genopyc is available at pip (https://pypi.org/project/genopyc/) and the source code of Genopyc is available at https://github.com/freh-g/genopyc Contactfrancesco.gualdi01@estudiant.upf.edu Supplementary informationsupplementary data are available at Bioinformatics online.

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Gualdi, F., Oliva, B., Pinero, J.. 2024-01-12. Genopyc: a python library for investigating the genomic basis of complex diseases. https://doi.org/10.1101/2024.01.11.575316

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