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NeuroVar：一种用于可视化神经疾病生物标志物基因表达和变异数据的开源工具。

NeuroVar: an open-source tool for the visualization of gene expression and variation data for biomarkers of neurological diseases.

作者信息

Aribi Hiba Ben, Abassi Najla, Awe Olaitan I

机构信息

Faculty of Sciences of Tunis, University of Tunis El Manar, 2092, Tunis, Tunisia.

Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, University of Tunis El Manar, 1002, Tunis, Tunisia.

出版信息

GigaByte. 2024 Nov 25;2024:gigabyte143. doi: 10.46471/gigabyte.143. eCollection 2024.

DOI:10.46471/gigabyte.143
PMID:39629064
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11612633/
Abstract

The expanding availability of large-scale genomic data and the growing interest in uncovering gene-disease associations call for efficient tools to visualize and evaluate gene expression and genetic variation data. Here, we developed a comprehensive pipeline that was implemented as an interactive Shiny application and a standalone desktop application. NeuroVar is a tool for visualizing genetic variation (single nucleotide polymorphisms and insertions/deletions) and gene expression profiles of biomarkers of neurological diseases. Data collection involved filtering biomarkers related to multiple neurological diseases from the ClinGen database. NeuroVar provides a user-friendly graphical user interface to visualize genomic data and is freely accessible on the project's GitHub repository (https://github.com/omicscodeathon/neurovar).

摘要

大规模基因组数据的可得性不断扩大，以及人们对揭示基因与疾病关联的兴趣日益浓厚，这就需要高效的工具来可视化和评估基因表达及遗传变异数据。在此，我们开发了一个综合流程，该流程被实现为一个交互式Shiny应用程序和一个独立的桌面应用程序。NeuroVar是一种用于可视化神经疾病生物标志物的遗传变异（单核苷酸多态性和插入/缺失）及基因表达谱的工具。数据收集包括从ClinGen数据库中筛选与多种神经疾病相关的生物标志物。NeuroVar提供了一个用户友好的图形用户界面来可视化基因组数据，并且可以在该项目的GitHub仓库（https://github.com/omicscodeathon/neurovar）上免费获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/f20d61cd6130/gigabyte-2024-143-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/29fc2b87b46e/gigabyte-2024-143-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/18d435ca4599/gigabyte-2024-143-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/51f4f12d779a/gigabyte-2024-143-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/913cc4e4b361/gigabyte-2024-143-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/122846f962ed/gigabyte-2024-143-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/6f04235342e4/gigabyte-2024-143-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/53835f70080d/gigabyte-2024-143-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/f20d61cd6130/gigabyte-2024-143-g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/29fc2b87b46e/gigabyte-2024-143-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/18d435ca4599/gigabyte-2024-143-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/51f4f12d779a/gigabyte-2024-143-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/913cc4e4b361/gigabyte-2024-143-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/122846f962ed/gigabyte-2024-143-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/6f04235342e4/gigabyte-2024-143-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/53835f70080d/gigabyte-2024-143-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/478b/11612633/f20d61cd6130/gigabyte-2024-143-g008.jpg

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本文引用的文献

[1]
Computational identification of potential inhibitors targeting in colorectal cancer.

Front Chem. 2023-11-30

[2]
Gene expression data visualization tool on the o²S²PARC platform.

F1000Res. 2022

[3]
Genes Link Mitochondrial Dysfunction and Alpha-Synuclein Pathology in Sporadic Parkinson's Disease.

Front Cell Dev Biol. 2021-7-6

[4]
Array programming with NumPy.

Nature. 2020-9-16

[5]
VIVA (VIsualization of VAriants): A VCF File Visualization Tool.

Sci Rep. 2019-9-2

[6]
geneHummus: an R package to define gene families and their expression in legumes and beyond.

BMC Genomics. 2019-7-18

[7]
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Nat Genet. 2019-2-28

[8]
RNA-Seq profiling in peripheral blood mononuclear cells of amyotrophic lateral sclerosis patients and controls.

Sci Data. 2019-2-5

[9]
vcfr: a package to manipulate and visualize variant call format data in R.

Mol Ecol Resour. 2017-1

[10]
ClinGen--the Clinical Genome Resource.

N Engl J Med. 2015-6-4

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