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Janet Piñero

dblp:347/5655 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2024
0000-0003-1244-7654ORCID · reported

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1 · 1 since 2021

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 100%

Topics — the 3 heaviest of 4, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › systems bioinformatics
pathway analysis
0.812024
Genopyc: a Python library for investigating the functional effects of genomic variants associated to complex diseases · Bioinform. 2024
Bioinformatics and computational biology › functional genomics
variant functional annotation
0.812024
Genopyc: a Python library for investigating the functional effects of genomic variants associated to complex diseases · Bioinform. 2024
Bioinformatics and computational biology › genomics
genome-wide association study
0.212024
Genopyc: a Python library for investigating the functional effects of genomic variants associated to complex diseases · Bioinform. 2024

Methods — techniques the papers use, named apart from their topics

heterogeneous data mining · 0.8data visualization · 0.8
YearPublicationVenuePosition
2024 Genopyc: a Python library for investigating the functional effects of genomic variants associated to complex diseases
abstract
MOTIVATION: Integrative Biomedicl Informatics, Research Program on Biomedical Informatics (IBI - GRIB), Hospital Del Mar Medical Research Institute (IMIM), Department of Experimental and Health Sciences, Universitat Pompeu Fabra (UPF) C/ del Dr. Aiguader 88 Barcelona 08003 Spain.Understanding the genetic basis of complex diseases is one of the main challenges in modern genomics. However, current tools often lack the versatility to efficiently analyze the intricate relationships between genetic variations and disease outcomes. To address this, we introduce Genopyc, a novel Python library designed for comprehensive investigation of how the variants associated to complex diseases affects downstream pathways. 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 datasets. RESULTS: In this work, we present the Genopyc library through application to real-world genome wide association studies variants. Using Genopyc to investigate the functional consequences of variants associated to intervertebral disc degeneration 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, facilitating the investigation of complex diseases paving the way for more targeted therapeutic interventions. AVAILABILITY AND IMPLEMENTATION: Genopyc is available on pip https://pypi.org/project/genopyc/.The source code of Genopyc is available at https://github.com/freh-g/genopyc. A tutorial notebook is available at https://github.com/freh-g/genopyc/blob/main/tutorials/Genopyc_tutorial_notebook.ipynb. Finally, a detailed documentation is available at: https://genopyc.readthedocs.io/en/latest/.
Francesco Gualdi, Baldomero Oliva, Janet Piñero
Bioinform.3