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VARista:一个免费的网络平台,用于简化 T2T、hg38 和 hg19 全基因组变异分析。

VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

机构信息

The Morris Kahn Laboratory of Human Genetics at the National Institute of Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

Genetics Institute, Soroka University Medical Center, Beer-Sheva, Israel.

出版信息

Hum Genet. 2024 May;143(5):695-701. doi: 10.1007/s00439-024-02671-4. Epub 2024 Apr 12.


DOI:10.1007/s00439-024-02671-4
PMID:38607411
Abstract

With the increasing importance of genomic data in understanding genetic diseases, there is an essential need for efficient and user-friendly tools that simplify variant analysis. Although multiple tools exist, many present barriers such as steep learning curves, limited reference genome compatibility, or costs. We developed VARista, a free web-based tool, to address these challenges and provide a streamlined solution for researchers, particularly those focusing on rare monogenic diseases. VARista offers a user-centric interface that eliminates much of the technical complexity typically associated with variant analysis. The tool directly supports VCF files generated using reference genomes hg19, hg38, and the emerging T2T, with seamless remapping capabilities between them. Features such as gene summaries and links, tissue and cell-specific gene expression data for both adults and fetuses, as well as automated PCR design and integration with tools such as SpliceAI and AlphaMissense, enable users to focus on the biology and the case itself. As we demonstrate, VARista proved effective in narrowing down potential disease-causing variants, prioritizing them effectively, and providing meaningful biological context, facilitating rapid decision-making. VARista stands out as a freely available and comprehensive tool that consolidates various aspects of variant analysis into a single platform that embraces the forefront of genomic advancements. Its design inherently supports a shift in focus from technicalities to critical thinking, thereby promoting better-informed decisions in genetic disease research. Given its unique capabilities and user-centric design, VARista has the potential to become an essential asset for the genomic research community. https://VARista.link.

摘要

随着基因组数据在理解遗传疾病方面的重要性不断增加,我们迫切需要高效且用户友好的工具来简化变异分析。尽管有多种工具存在,但许多工具都存在障碍,例如陡峭的学习曲线、有限的参考基因组兼容性或成本。我们开发了 VARista,这是一个免费的基于网络的工具,旨在解决这些挑战,并为研究人员提供一个简化的解决方案,特别是那些专注于罕见单基因疾病的研究人员。VARista 提供了一个以用户为中心的界面,消除了通常与变异分析相关的许多技术复杂性。该工具直接支持使用参考基因组 hg19、hg38 和新兴的 T2T 生成的 VCF 文件,并具有它们之间无缝重新映射的功能。VARista 具有基因摘要和链接、成人和胎儿特定组织和细胞的基因表达数据以及自动 PCR 设计等功能,并与 SpliceAI 和 AlphaMissense 等工具集成,使用户能够专注于生物学和案例本身。正如我们所展示的,VARista 被证明可以有效地缩小潜在的致病变异,并有效地对其进行优先级排序,同时提供有意义的生物学背景,从而促进快速决策。VARista 是一款免费且全面的工具,将变异分析的各个方面整合到一个平台中,该平台采用了基因组学的最新进展。它的设计本质上支持从技术细节到批判性思维的转变,从而促进遗传疾病研究中做出更明智的决策。鉴于其独特的功能和以用户为中心的设计,VARista 有可能成为基因组研究社区的重要资产。https://VARista.link.

相似文献

[1]
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

Hum Genet. 2024-5

[2]
Variant graph craft (VGC): a comprehensive tool for analyzing genetic variation and identifying disease-causing variants.

BMC Bioinformatics. 2024-9-3

[3]
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Eur J Hum Genet. 2023-7

[4]
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Mol Genet Metab. 2015-3

[5]
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BMC Med Genomics. 2019-12-30

[6]
VCF observer: a user-friendly software tool for preliminary VCF file analysis and comparison.

BMC Bioinformatics. 2024-9-3

[7]
VCF-Server: A web-based visualization tool for high-throughput variant data mining and management.

Mol Genet Genomic Med. 2019-5-24

[8]
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[9]
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[10]
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引用本文的文献

[1]
Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

NPJ Genom Med. 2025-3-13

[2]
Importance of EQA/PT for the detection of genetic variants in comprehensive cancer genome testing.

Sci Rep. 2025-1-7

[3]
GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries.

Database (Oxford). 2024-12-27

本文引用的文献

[1]
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.

Eur J Hum Genet. 2024-5

[2]
GeniePool: genomic database with corresponding annotated samples based on a cloud data lake architecture.

Database (Oxford). 2023-6-13

[3]
De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.

Clin Genet. 2023-11

[4]
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.

J Inherit Metab Dis. 2023-7

[5]
Insights on variant analysis tools for pathogenicity prediction.

Front Genet. 2022-11-29

[6]
A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population.

Exp Mol Med. 2022-11

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Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.

Immunol Res. 2022-12

[8]
The TissueNet v.3 Database: Protein-protein Interactions in Adult and Embryonic Human Tissue contexts.

J Mol Biol. 2022-6-15

[9]
seqr: A web-based analysis and collaboration tool for rare disease genomics.

Hum Mutat. 2022-6

[10]
MODOMICS: a database of RNA modification pathways. 2021 update.

Nucleic Acids Res. 2022-1-7

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