Suppr超能文献

SCI-VCF:一种用于总结、比较、检查和可视化变异调用格式的跨平台图形用户界面解决方案。

SCI-VCF: a cross-platform GUI solution to summarize, compare, inspect and visualize the variant call format.

作者信息

Kamaraj Venkatesh, Sinha Himanshu

机构信息

Centre for Integrative Biology and Systems Medicine (IBSE), IIT Madras, Chennai 600036, Tamil Nadu, India.

Robert Bosch Centre for Data Science and Artificial Intelligence (RBCDSAI), IIT Madras, Chennai 600036, Tamil Nadu, India.

出版信息

NAR Genom Bioinform. 2024 Jul 9;6(3):lqae083. doi: 10.1093/nargab/lqae083. eCollection 2024 Sep.

Abstract

As genomics advances swiftly and its applications extend to diverse fields, bioinformatics tools must enable researchers and clinicians to work with genomic data irrespective of their programming expertise. We developed SCI-VCF, a Shiny-based comprehensive analysis utility to summarize, compare, inspect, analyse and design interactive visualizations of the genetic variants from the variant call format. With an intuitive graphical user interface, SCI-VCF aims to bridge the approachability gap in genomics that arises from the existing predominantly command-line utilities. SCI-VCF is written in R and is freely available at https://doi.org/10.5281/zenodo.11453080. For installation-free access, users can avail themselves of an online version at https://ibse.shinyapps.io/sci-vcf-online.

摘要

随着基因组学的迅速发展及其应用扩展到各个领域,生物信息学工具必须使研究人员和临床医生能够处理基因组数据,而不论其编程专业知识如何。我们开发了SCI-VCF,这是一个基于Shiny的综合分析工具,用于汇总、比较、检查、分析和设计来自变异调用格式的遗传变异的交互式可视化。凭借直观的图形用户界面,SCI-VCF旨在弥合由于现有的主要基于命令行的实用工具而产生的基因组学可及性差距。SCI-VCF用R编写,可在https://doi.org/10.5281/zenodo.11453080免费获取。为了实现免安装访问,用户可以在https://ibse.shinyapps.io/sci-vcf-online使用在线版本。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed77/11231579/a92942ddb3f9/lqae083fig1.jpg

相似文献

1
SCI-VCF: a cross-platform GUI solution to summarize, compare, inspect and visualize the variant call format.
NAR Genom Bioinform. 2024 Jul 9;6(3):lqae083. doi: 10.1093/nargab/lqae083. eCollection 2024 Sep.
2
re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files.
PeerJ. 2021 May 3;9:e11333. doi: 10.7717/peerj.11333. eCollection 2021.
3
VCF-Server: A web-based visualization tool for high-throughput variant data mining and management.
Mol Genet Genomic Med. 2019 Jul;7(7):e00641. doi: 10.1002/mgg3.641. Epub 2019 May 24.
4
VCF-kit: assorted utilities for the variant call format.
Bioinformatics. 2017 May 15;33(10):1581-1582. doi: 10.1093/bioinformatics/btx011.
5
VCF observer: a user-friendly software tool for preliminary VCF file analysis and comparison.
BMC Bioinformatics. 2024 Sep 3;25(1):290. doi: 10.1186/s12859-024-05860-0.
6
VCFshiny: an R/Shiny application for interactively analyzing and visualizing genetic variants.
Bioinform Adv. 2023 Aug 26;3(1):vbad107. doi: 10.1093/bioadv/vbad107. eCollection 2023.
7
VCF/Plotein: visualization and prioritization of genomic variants from human exome sequencing projects.
Bioinformatics. 2019 Nov 1;35(22):4803-4805. doi: 10.1093/bioinformatics/btz458.
8
VCF-Miner: GUI-based application for mining variants and annotations stored in VCF files.
Brief Bioinform. 2016 Mar;17(2):346-51. doi: 10.1093/bib/bbv051. Epub 2015 Jul 25.
10
GVAF: generalized, flexible filtering software for annotated variant files.
Genes Genomics. 2024 Dec;46(12):1487-1493. doi: 10.1007/s13258-024-01580-0. Epub 2024 Oct 12.

本文引用的文献

1
Cutevariant: a standalone GUI-based desktop application to explore genetic variations from an annotated VCF file.
Bioinform Adv. 2021 Nov 25;2(1):vbab028. doi: 10.1093/bioadv/vbab028. eCollection 2022.
3
A spectrum of free software tools for processing the VCF variant call format: vcflib, bio-vcf, cyvcf2, hts-nim and slivar.
PLoS Comput Biol. 2022 May 31;18(5):e1009123. doi: 10.1371/journal.pcbi.1009123. eCollection 2022 May.
4
re-Searcher: GUI-based bioinformatics tool for simplified genomics data mining of VCF files.
PeerJ. 2021 May 3;9:e11333. doi: 10.7717/peerj.11333. eCollection 2021.
5
The mutational constraint spectrum quantified from variation in 141,456 humans.
Nature. 2020 May;581(7809):434-443. doi: 10.1038/s41586-020-2308-7. Epub 2020 May 27.
6
Anthropological perspectives on genomic data, genetic ancestry, and race.
Am J Phys Anthropol. 2020 May;171 Suppl 70:74-86. doi: 10.1002/ajpa.23979. Epub 2019 Dec 14.
7
VIVA (VIsualization of VAriants): A VCF File Visualization Tool.
Sci Rep. 2019 Sep 2;9(1):12648. doi: 10.1038/s41598-019-49114-z.
8
Genomics and data science: an application within an umbrella.
Genome Biol. 2019 May 29;20(1):109. doi: 10.1186/s13059-019-1724-1.
9
The role of genetics and genomics in clinical psychiatry.
Dialogues Clin Neurosci. 2018 Sep;20(3):169-177. doi: 10.31887/DCNS.2018.20.3/mhoehe.
10
The Promise of Agriculture Genomics.
Int J Genomics. 2017;2017:9743749. doi: 10.1155/2017/9743749. Epub 2017 Mar 5.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验