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AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine

The development of high-throughput molecular testing techniques has enabled the large-scale exploration of the underlying molecular causes of diseases and the development of targeted treatment for specific genetic alterations. However, knowledge to interpret the impact of genetic variants on disease...

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Autores principales: Quan, Xueping, Cai, Weijing, Xi, Chenghang, Wang, Chunxiao, Yan, Linghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976745/
https://www.ncbi.nlm.nih.gov/pubmed/36856726
http://dx.doi.org/10.1093/database/baad006
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author Quan, Xueping
Cai, Weijing
Xi, Chenghang
Wang, Chunxiao
Yan, Linghua
author_facet Quan, Xueping
Cai, Weijing
Xi, Chenghang
Wang, Chunxiao
Yan, Linghua
author_sort Quan, Xueping
collection PubMed
description The development of high-throughput molecular testing techniques has enabled the large-scale exploration of the underlying molecular causes of diseases and the development of targeted treatment for specific genetic alterations. However, knowledge to interpret the impact of genetic variants on disease or treatment is distributed in different databases, scientific literature studies and clinical guidelines. AIMedGraph was designed to comprehensively collect and interrogate standardized information about genes, genetic alterations and their therapeutic and diagnostic relevance and build a multi-relational, evidence-based knowledge graph. Graph database Neo4j was used to represent precision medicine knowledge as nodes and edges in AIMedGraph. Entities in the current release include 30 340 diseases/phenotypes, 26 140 genes, 187 541 genetic variants, 2821 drugs, 15 125 clinical trials and 797 911 supporting literature studies. Edges in this release cover 621 731 drug interactions, 9279 drug susceptibility impacts, 6330 pharmacogenomics effects, 30 339 variant pathogenicity and 1485 drug adverse reactions. The knowledge graph technique enables hidden knowledge inference and provides insight into potential disease or drug molecular mechanisms. Database URL: http://aimedgraph.tongshugene.net:8201
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spelling pubmed-99767452023-03-02 AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine Quan, Xueping Cai, Weijing Xi, Chenghang Wang, Chunxiao Yan, Linghua Database (Oxford) Original Article The development of high-throughput molecular testing techniques has enabled the large-scale exploration of the underlying molecular causes of diseases and the development of targeted treatment for specific genetic alterations. However, knowledge to interpret the impact of genetic variants on disease or treatment is distributed in different databases, scientific literature studies and clinical guidelines. AIMedGraph was designed to comprehensively collect and interrogate standardized information about genes, genetic alterations and their therapeutic and diagnostic relevance and build a multi-relational, evidence-based knowledge graph. Graph database Neo4j was used to represent precision medicine knowledge as nodes and edges in AIMedGraph. Entities in the current release include 30 340 diseases/phenotypes, 26 140 genes, 187 541 genetic variants, 2821 drugs, 15 125 clinical trials and 797 911 supporting literature studies. Edges in this release cover 621 731 drug interactions, 9279 drug susceptibility impacts, 6330 pharmacogenomics effects, 30 339 variant pathogenicity and 1485 drug adverse reactions. The knowledge graph technique enables hidden knowledge inference and provides insight into potential disease or drug molecular mechanisms. Database URL: http://aimedgraph.tongshugene.net:8201 Oxford University Press 2023-02-28 /pmc/articles/PMC9976745/ /pubmed/36856726 http://dx.doi.org/10.1093/database/baad006 Text en © The Author(s) 2023. Published by Oxford University Press. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Quan, Xueping
Cai, Weijing
Xi, Chenghang
Wang, Chunxiao
Yan, Linghua
AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine
title AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine
title_full AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine
title_fullStr AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine
title_full_unstemmed AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine
title_short AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine
title_sort aimedgraph: a comprehensive multi-relational knowledge graph for precision medicine
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976745/
https://www.ncbi.nlm.nih.gov/pubmed/36856726
http://dx.doi.org/10.1093/database/baad006
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