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变异指南图谱：变异解读指南库

VarGuideAtlas: a repository of variant interpretation guidelines.

作者信息

Costa Mireia, García S Alberto, Pastor Oscar

机构信息

PROS Research Center, VRAIN, Universitat Politècnica de València, Cami de Vera, S/N, Valencia, Valencia 46022, Spain.

出版信息

Database (Oxford). 2025 Mar 11;2025. doi: 10.1093/database/baaf017.

DOI:10.1093/database/baaf017
PMID:40067792
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11895764/
Abstract

Variant interpretation guidelines guide the process of determining the role of DNA variants in patients' health. Currently, hundreds of guidelines exist, each applicable to a particular clinical domain. However, they are scattered across multiple resources and scientific literature. To address this issue, we present VarGuideAtlas, a comprehensive repository of variant interpretation guidelines that compiles information from ClinGen, ClinVar, and PubMed. Our repository offers a user-friendly web interface with advanced search capabilities, enabling clinicians and researchers to efficiently find relevant guidelines tailored to specific genes, diseases, or variant types. We employ ontologies to characterize each guideline, ensuring consistency and improving interoperability with bioinformatics tools. VarGuideAtlas represents a significant advance toward standardizing variant interpretation practices, facilitating more informed decision-making, improved clinical outcomes, and more precise genomic research. VarGuideAtlas is publicly accessible via a web-based platform (https://genomics-hub.pros.dsic.upv.es:3016/).

摘要

变异解读指南指导着确定DNA变异在患者健康中作用的过程。目前，存在数百种指南，每种指南适用于特定的临床领域。然而，它们分散在多个资源和科学文献中。为了解决这个问题，我们推出了VarGuideAtlas，这是一个变异解读指南的综合知识库，它整合了来自临床基因组资源（ClinGen）、临床变异数据库（ClinVar）和医学期刊数据库（PubMed）的信息。我们的知识库提供了一个用户友好的网络界面，具备高级搜索功能，使临床医生和研究人员能够高效地找到针对特定基因、疾病或变异类型的相关指南。我们使用本体来描述每个指南，确保一致性并提高与生物信息学工具的互操作性。VarGuideAtlas代表了变异解读实践标准化方面的重大进展，有助于做出更明智的决策、改善临床结果以及进行更精确的基因组研究。VarGuideAtlas可通过基于网络的平台（https://genomics-hub.pros.dsic.upv.es:3016/）公开访问。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c47b/11895764/b23e4c29f1bd/baaf017f6.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c47b/11895764/b23e4c29f1bd/baaf017f6.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c47b/11895764/627669123039/baaf017f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c47b/11895764/175beb9df48c/baaf017f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c47b/11895764/390cac9c9294/baaf017f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c47b/11895764/435913c2725f/baaf017f4.jpg
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https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c47b/11895764/b23e4c29f1bd/baaf017f6.jpg

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