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

Abstract

Motivation: Understanding the genetic basis of complex diseases is a paramount challenge in modern genomics. However, current tools often lack the versatility to efficiently analyze the intri-cate relationships between genetic variations and disease outcomes. To address this, we intro-duce Genopyc, a novel Python library designed for comprehensive investigation of the genetics underlying complex diseases. Genopyc offers an extensive suite of functions for heterogeneous data mining and visualization, enabling researchers to delve into and integrate biological infor-mation from large-scale genomic datasets with ease. Results: In this study, we present the Genopyc library through application to real-world genome wide association studies variants. Using Genopyc to investigate variants associated to interverte-bral disc degeneration (IDD) enabled a deeper understanding of the potential dysregulated path-ways involved in the disease, which can be explored and visualized by exploiting the functionali-ties featured in the package. Genopyc emerges as a powerful asset for researchers, fostering ad-vancements in the understanding 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