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BbGSD: Black-boned Sheep Genome SNP Database. 黑骨羊基因组SNP数据库。
IF 3.4 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY Pub Date : 2025-01-28 DOI: 10.1093/database/baaf004
Chunjuan He, Lichang Chen, Juntao Cao, Yuqing Zhong, Zhendong Gao, Weidong Deng, Jiajin Zhang

Lanping black-boned (LPBB) sheep are a unique and rare ruminant species, characterized by black pigmentation in the skin and internal organs. Thus far, LPBB are the only known animal with heritable melanin characteristics besides the black-boned chicken, and the only mammal known to contain a large amount of melanin in the body. LPBB have therefore attracted substantial research attention, due to their potential contribution to medicine. However, long periods of grazing freely and crossbreeding with Lanping normal sheep (LPN) have diluted LPBB breeding resources, posing a challenge to the protection of species. To ensure the effective conservation and management of LPBB genetic resources, the construction of a large-scale database of genotypic information is therefore very important. To achieve this, we established the first LPBB-specific SNP database, named Black-boned Sheep Genome SNP Database (BbGSD, http://202.203.179.115:3838/oarsnpdb) using sheep genotype data (100 LPBB and 50 LPN) across 46 894 242 SNP sites. In this database, we implemented four main function modules: (i) the "LD heatmap" module, which uses a heatmap to enable the interactive visualization of pairwise linkage disequilibrium (LD) measurements between SNPs; (ii) the "SNP distribution" module, which allows users to interactively visualize tabular genotype data as heat maps; (iii) the "Phylogenetics" module which enables phylogenetic analysis to explore the evolutionary history or genetic relationships of the LPBB sheep; and the "Diversity" module, which can be used to calculate and display the nucleotide diversity among sheep populations in user-specified genomic regions. BbGSD is essential for accelerating studies on the functional genomics and screening of molecular markers of molecular-assisted breeding in black-boned sheep. Database URL: http://202.203.179.115:3838/oarsnpdb.

兰平黑骨羊是一种独特而稀有的反刍动物,其特征是皮肤和内脏的黑色色素沉着。到目前为止,LPBB是除了黑骨鸡之外唯一已知的具有遗传性黑色素特征的动物,也是唯一已知的体内含有大量黑色素的哺乳动物。因此,由于其对医学的潜在贡献,LPBB吸引了大量的研究关注。然而,长期的自由放牧和与兰平正常羊的杂交使兰平正常羊的育种资源被稀释,给物种保护带来了挑战。因此,为了保证lppb遗传资源的有效保护和管理,构建大规模的基因型信息数据库是非常重要的。为了实现这一目标,我们利用46 894 242个SNP位点的羊基因型数据(100个lbbb和50个LPN)建立了第一个lbbb特异性SNP数据库,命名为黑骨羊基因组SNP数据库(BbGSD, http://202.203.179.115:3838/oarsnpdb)。在该数据库中,我们实现了四个主要功能模块:(i)“LD热图”模块,该模块使用热图实现snp之间成对连锁不平衡(LD)测量的交互式可视化;(ii)“SNP分布”模块,允许用户以热图的形式交互式地可视化表格式基因型数据;(iii)“系统发育”模块,该模块使系统发育分析能够探索LPBB羊的进化史或遗传关系;“多样性”模块,可用于计算和显示用户指定基因组区域的绵羊群体之间的核苷酸多样性。BbGSD对于加快黑骨羊分子辅助育种的功能基因组学研究和分子标记筛选具有重要意义。数据库地址:http://202.203.179.115:3838/oarsnpdb。
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引用次数: 0
BbGSD: Black-boned Sheep Genome SNP Database. 黑骨羊基因组SNP数据库。
IF 3.6 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY Pub Date : 2025-01-28 DOI: 10.1093/database/baaf004
Chunjuan He, Lichang Chen, Juntao Cao, Yuqing Zhong, Zhendong Gao, Weidong Deng, Jiajin Zhang

Lanping black-boned (LPBB) sheep are a unique and rare ruminant species, characterized by black pigmentation in the skin and internal organs. Thus far, LPBB are the only known animal with heritable melanin characteristics besides the black-boned chicken, and the only mammal known to contain a large amount of melanin in the body. LPBB have therefore attracted substantial research attention, due to their potential contribution to medicine. However, long periods of grazing freely and crossbreeding with Lanping normal sheep (LPN) have diluted LPBB breeding resources, posing a challenge to the protection of species. To ensure the effective conservation and management of LPBB genetic resources, the construction of a large-scale database of genotypic information is therefore very important. To achieve this, we established the first LPBB-specific SNP database, named Black-boned Sheep Genome SNP Database (BbGSD, http://202.203.179.115:3838/oarsnpdb) using sheep genotype data (100 LPBB and 50 LPN) across 46 894 242 SNP sites. In this database, we implemented four main function modules: (i) the "LD heatmap" module, which uses a heatmap to enable the interactive visualization of pairwise linkage disequilibrium (LD) measurements between SNPs; (ii) the "SNP distribution" module, which allows users to interactively visualize tabular genotype data as heat maps; (iii) the "Phylogenetics" module which enables phylogenetic analysis to explore the evolutionary history or genetic relationships of the LPBB sheep; and the "Diversity" module, which can be used to calculate and display the nucleotide diversity among sheep populations in user-specified genomic regions. BbGSD is essential for accelerating studies on the functional genomics and screening of molecular markers of molecular-assisted breeding in black-boned sheep. Database URL: http://202.203.179.115:3838/oarsnpdb.

兰平黑骨羊是一种独特而稀有的反刍动物,其特征是皮肤和内脏的黑色色素沉着。到目前为止,LPBB是除了黑骨鸡之外唯一已知的具有遗传性黑色素特征的动物,也是唯一已知的体内含有大量黑色素的哺乳动物。因此,由于其对医学的潜在贡献,LPBB吸引了大量的研究关注。然而,长期的自由放牧和与兰平正常羊的杂交使兰平正常羊的育种资源被稀释,给物种保护带来了挑战。因此,为了保证lppb遗传资源的有效保护和管理,构建大规模的基因型信息数据库是非常重要的。为了实现这一目标,我们利用46 894 242个SNP位点的羊基因型数据(100个lbbb和50个LPN)建立了第一个lbbb特异性SNP数据库,命名为黑骨羊基因组SNP数据库(BbGSD, http://202.203.179.115:3838/oarsnpdb)。在该数据库中,我们实现了四个主要功能模块:(i)“LD热图”模块,该模块使用热图实现snp之间成对连锁不平衡(LD)测量的交互式可视化;(ii)“SNP分布”模块,允许用户以热图的形式交互式地可视化表格式基因型数据;(iii)“系统发育”模块,该模块使系统发育分析能够探索LPBB羊的进化史或遗传关系;“多样性”模块,可用于计算和显示用户指定基因组区域的绵羊群体之间的核苷酸多样性。BbGSD对于加快黑骨羊分子辅助育种的功能基因组学研究和分子标记筛选具有重要意义。数据库地址:http://202.203.179.115:3838/oarsnpdb。
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引用次数: 0
The TOXIN knowledge graph: supporting animal-free risk assessment of cosmetics. 毒素知识图谱:支持化妆品的无动物风险评估。
IF 3.6 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY Pub Date : 2025-01-28 DOI: 10.1093/database/baae121
Sara Sepehri, Anja Heymans, Dinja De Win, Jan Maushagen, Audrey Sanctorum, Christophe Debruyne, Robim M Rodrigues, Joery De Kock, Vera Rogiers, Olga De Troyer, Tamara Vanhaecke

The European Union's ban on animal testing for cosmetic products and their ingredients, combined with the lack of validated animal-free methods, poses challenges in evaluating their potential repeated-dose organ toxicity. To address this, innovative strategies like Next-Generation Risk Assessment (NGRA) are being explored, integrating historical animal data with new mechanistic insights from non-animal New Approach Methodologies (NAMs). This paper introduces the TOXIN knowledge graph (TOXIN KG), a tool designed to retrieve toxicological information on cosmetic ingredients, with a focus on liver-related data. TOXIN KG uses graph-structured semantic technology and integrates toxicological data through ontologies, ensuring interoperable representation. The primary data source is safety information on cosmetic ingredients from scientific opinions issued by the Scientific Committee on Consumer Safety between 2009 and 2019. The ToxRTool automates the reliability assessment of toxicity studies, while the Simplified Molecular Input Line Entry System (SMILES) notation standardizes chemical identification, enabling in silico prediction of repeated-dose toxicity via the implementation of the Organization for Economic Co-operation and Development Quantitative Structure-Activity Relationship Toolbox (OECD QSAR Toolbox). The ToXic Process Ontology, enriched with relevant biological repositories, is employed to represent toxicological concepts systematically. Search filters allow the identification of cosmetic compounds potentially linked to liver toxicity. Data visualization is achieved through Ontodia, a JavaScript library. TOXIN KG, filled with information for 88 cosmetic ingredients, allowed us to identify 53 compounds affecting at least one liver toxicity parameter in a 90-day repeated-dose animal study. For one compound, we illustrate how TOXIN KG links this observation to hepatic cholestasis as an adverse outcome. In an ab initio NGRA context, follow-up in vitro studies using human-based NAMs would be necessary to understand the compound's biological activity and the molecular mechanism leading to the adverse effect. In summary, TOXIN KG emerges as a valuable tool for advancing the reusability of cosmetics safety data, providing knowledge in support of NAM-based hazard and risk assessments. Database URL: https://toxin-search.netlify.app/.

欧盟禁止对化妆品及其成分进行动物实验,再加上缺乏经过验证的无动物实验方法,这给评估化妆品潜在的重复给药器官毒性带来了挑战。为了解决这个问题,人们正在探索下一代风险评估(NGRA)等创新策略,将历史动物数据与来自非动物新方法方法论(NAMs)的新机制见解相结合。本文介绍了毒素知识图谱(TOXIN KG),一个用于检索化妆品成分毒理学信息的工具,重点是肝脏相关数据。毒素KG使用图结构语义技术,并通过本体集成毒理学数据,确保可互操作表示。主要数据来源是2009年至2019年消费者安全科学委员会发布的科学意见中关于化妆品成分的安全信息。ToxRTool自动化了毒性研究的可靠性评估,而简化分子输入线输入系统(SMILES)符号标准化了化学鉴定,通过实施经济合作与发展组织定量结构-活性关系工具箱(OECD QSAR工具箱),实现了重复剂量毒性的计算机预测。毒性过程本体,丰富了相关的生物资源库,被用来系统地表示毒理学概念。搜索过滤器允许识别可能与肝毒性有关的化妆品化合物。数据可视化是通过JavaScript库Ontodia实现的。毒素KG含有88种化妆品成分的信息,使我们能够在90天的重复给药动物研究中确定53种影响至少一种肝脏毒性参数的化合物。对于一种化合物,我们说明了毒素KG如何将这种观察与肝脏胆汁淤积作为不利结果联系起来。在从头开始的NGRA背景下,有必要使用基于人的NAMs进行后续的体外研究,以了解该化合物的生物活性和导致不良反应的分子机制。总之,毒素KG是促进化妆品安全数据可重复使用的宝贵工具,为支持基于nama的危害和风险评估提供了知识。数据库地址:https://toxin-search.netlify.app/。
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引用次数: 0
The TOXIN knowledge graph: supporting animal-free risk assessment of cosmetics. 毒素知识图谱:支持化妆品的无动物风险评估。
IF 3.4 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY Pub Date : 2025-01-28 DOI: 10.1093/database/baae121
Sara Sepehri, Anja Heymans, Dinja De Win, Jan Maushagen, Audrey Sanctorum, Christophe Debruyne, Robim M Rodrigues, Joery De Kock, Vera Rogiers, Olga De Troyer, Tamara Vanhaecke

The European Union's ban on animal testing for cosmetic products and their ingredients, combined with the lack of validated animal-free methods, poses challenges in evaluating their potential repeated-dose organ toxicity. To address this, innovative strategies like Next-Generation Risk Assessment (NGRA) are being explored, integrating historical animal data with new mechanistic insights from non-animal New Approach Methodologies (NAMs). This paper introduces the TOXIN knowledge graph (TOXIN KG), a tool designed to retrieve toxicological information on cosmetic ingredients, with a focus on liver-related data. TOXIN KG uses graph-structured semantic technology and integrates toxicological data through ontologies, ensuring interoperable representation. The primary data source is safety information on cosmetic ingredients from scientific opinions issued by the Scientific Committee on Consumer Safety between 2009 and 2019. The ToxRTool automates the reliability assessment of toxicity studies, while the Simplified Molecular Input Line Entry System (SMILES) notation standardizes chemical identification, enabling in silico prediction of repeated-dose toxicity via the implementation of the Organization for Economic Co-operation and Development Quantitative Structure-Activity Relationship Toolbox (OECD QSAR Toolbox). The ToXic Process Ontology, enriched with relevant biological repositories, is employed to represent toxicological concepts systematically. Search filters allow the identification of cosmetic compounds potentially linked to liver toxicity. Data visualization is achieved through Ontodia, a JavaScript library. TOXIN KG, filled with information for 88 cosmetic ingredients, allowed us to identify 53 compounds affecting at least one liver toxicity parameter in a 90-day repeated-dose animal study. For one compound, we illustrate how TOXIN KG links this observation to hepatic cholestasis as an adverse outcome. In an ab initio NGRA context, follow-up in vitro studies using human-based NAMs would be necessary to understand the compound's biological activity and the molecular mechanism leading to the adverse effect. In summary, TOXIN KG emerges as a valuable tool for advancing the reusability of cosmetics safety data, providing knowledge in support of NAM-based hazard and risk assessments. Database URL: https://toxin-search.netlify.app/.

欧盟禁止对化妆品及其成分进行动物实验,再加上缺乏经过验证的无动物实验方法,这给评估化妆品潜在的重复给药器官毒性带来了挑战。为了解决这个问题,人们正在探索下一代风险评估(NGRA)等创新策略,将历史动物数据与来自非动物新方法方法论(NAMs)的新机制见解相结合。本文介绍了毒素知识图谱(TOXIN KG),一个用于检索化妆品成分毒理学信息的工具,重点是肝脏相关数据。毒素KG使用图结构语义技术,并通过本体集成毒理学数据,确保可互操作表示。主要数据来源是2009年至2019年消费者安全科学委员会发布的科学意见中关于化妆品成分的安全信息。ToxRTool自动化了毒性研究的可靠性评估,而简化分子输入线输入系统(SMILES)符号标准化了化学鉴定,通过实施经济合作与发展组织定量结构-活性关系工具箱(OECD QSAR工具箱),实现了重复剂量毒性的计算机预测。毒性过程本体,丰富了相关的生物资源库,被用来系统地表示毒理学概念。搜索过滤器允许识别可能与肝毒性有关的化妆品化合物。数据可视化是通过JavaScript库Ontodia实现的。毒素KG含有88种化妆品成分的信息,使我们能够在90天的重复给药动物研究中确定53种影响至少一种肝脏毒性参数的化合物。对于一种化合物,我们说明了毒素KG如何将这种观察与肝脏胆汁淤积作为不利结果联系起来。在从头开始的NGRA背景下,有必要使用基于人的NAMs进行后续的体外研究,以了解该化合物的生物活性和导致不良反应的分子机制。总之,毒素KG是促进化妆品安全数据可重复使用的宝贵工具,为支持基于nama的危害和风险评估提供了知识。数据库地址:https://toxin-search.netlify.app/。
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引用次数: 0
BuffExDb: web-based tissue-specific gene expression resource for breeding and conservation programmes in Bubalus bubalis. Bubalus bubalis的组织特异性基因表达资源。
IF 3.6 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY Pub Date : 2025-01-24 DOI: 10.1093/database/baae128
Naina Kumari, Samir Kumar, Anupama Roy, Princy Saini, Sarika Jaiswal, Mir Asif Iquebal, Ulavappa B Angadi, Dinesh Kumar

Amidst the global challenge of extreme poverty, the livestock sector can significantly contribute to global sustainable development goals by enhancing resilience, smallholder productivity, and market participation. The Indian livestock sector is one of the largest in the world with a total livestock population of 535.82 million, ∼10.7% of the world's livestock population. Buffalo (Bubalus bubalis) holds significant importance in India and other Asian countries, notably contributing to their economies by surpassing cattle in milk production and providing various valuable products. The limited availability of genomic and transcriptomic resources for buffaloes hinders the efforts to enhance their traits for increased milk and meat production. To address this gap, this study adopted the state-of-the-art bioinformatics tools to analyse 2429 transcriptomes representing 438 BioSamples from 23 BioProjects obtained from a public domain database, representing 76 different types of tissues and cell types from all major organ systems in buffalo species (river and swamp). The outcome of this exhaustive genomic data led to the development of a relational buffalo expression database based on a three-tier architecture named as BuffExDb (http://46.202.167.198/buffex/). The user-friendliness and flexibilities in retrieval of tissue-specific genes (TSGs) and their functional annotation are the major characteristics of BuffExDb. This is the first of its kind that offers an effortlessly navigable and filterable database, enabling users to examine and visualize the expression levels of each tissue across multiple samples, simultaneously. It also provides the Tau score parameter for the identification of TSGs along with their essential roles in tissue development, maintenance, and function as observed through the enrichment test for gene ontologies. The exhaustive outcome of this work would pave the way for the biological, functional, and evolutionary studies for easy access. This prior information based on tissue-specific mechanisms can be used for future genomic research, especially in association studies in endeavour of enhanced buffalo breeding and conservation programmes. Database URL: http://46.202.167.198/buffex/.

在极端贫困的全球挑战中,畜牧业可以通过提高抵御力、小农生产力和市场参与度,为全球可持续发展目标做出重大贡献。印度畜牧业是世界上最大的畜牧业之一,牲畜总数为5.3582亿,占世界牲畜总数的10.7%。水牛(Bubalus bubalis)在印度和其他亚洲国家占有重要地位,特别是通过在牛奶产量方面超过牛,并提供各种有价值的产品,对他们的经济做出了贡献。水牛基因组和转录组学资源的有限性阻碍了提高其性状以增加牛奶和肉类产量的努力。为了解决这一差距,本研究采用了最先进的生物信息学工具,分析了来自公共领域数据库的23个生物项目的2429个转录组,代表了438个生物样本,代表了水牛物种(河流和沼泽)所有主要器官系统的76种不同类型的组织和细胞类型。这种详尽的基因组数据的结果导致了基于三层架构的关系水牛表达式数据库的开发,该数据库名为BuffExDb (http://46.202.167.198/buffex/)。在检索组织特异性基因(tsg)及其功能注释方面的易用性和灵活性是BuffExDb的主要特点。这是同类中第一个提供轻松导航和可过滤数据库的,使用户能够同时检查和可视化多个样本中每个组织的表达水平。它还提供了Tau评分参数,用于识别tsg及其在组织发育,维持和功能中的重要作用,通过基因本体的富集测试观察到。这项工作的详尽结果将为生物、功能和进化研究铺平道路。这种基于组织特异性机制的先验信息可用于未来的基因组研究,特别是在努力加强水牛繁殖和保护计划的关联研究中。数据库地址:http://46.202.167.198/buffex/。
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引用次数: 0
BuffExDb: web-based tissue-specific gene expression resource for breeding and conservation programmes in Bubalus bubalis. Bubalus bubalis的组织特异性基因表达资源。
IF 3.4 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY Pub Date : 2025-01-24 DOI: 10.1093/database/baae128
Naina Kumari, Samir Kumar, Anupama Roy, Princy Saini, Sarika Jaiswal, Mir Asif Iquebal, Ulavappa B Angadi, Dinesh Kumar

Amidst the global challenge of extreme poverty, the livestock sector can significantly contribute to global sustainable development goals by enhancing resilience, smallholder productivity, and market participation. The Indian livestock sector is one of the largest in the world with a total livestock population of 535.82 million, ∼10.7% of the world's livestock population. Buffalo (Bubalus bubalis) holds significant importance in India and other Asian countries, notably contributing to their economies by surpassing cattle in milk production and providing various valuable products. The limited availability of genomic and transcriptomic resources for buffaloes hinders the efforts to enhance their traits for increased milk and meat production. To address this gap, this study adopted the state-of-the-art bioinformatics tools to analyse 2429 transcriptomes representing 438 BioSamples from 23 BioProjects obtained from a public domain database, representing 76 different types of tissues and cell types from all major organ systems in buffalo species (river and swamp). The outcome of this exhaustive genomic data led to the development of a relational buffalo expression database based on a three-tier architecture named as BuffExDb (http://46.202.167.198/buffex/). The user-friendliness and flexibilities in retrieval of tissue-specific genes (TSGs) and their functional annotation are the major characteristics of BuffExDb. This is the first of its kind that offers an effortlessly navigable and filterable database, enabling users to examine and visualize the expression levels of each tissue across multiple samples, simultaneously. It also provides the Tau score parameter for the identification of TSGs along with their essential roles in tissue development, maintenance, and function as observed through the enrichment test for gene ontologies. The exhaustive outcome of this work would pave the way for the biological, functional, and evolutionary studies for easy access. This prior information based on tissue-specific mechanisms can be used for future genomic research, especially in association studies in endeavour of enhanced buffalo breeding and conservation programmes. Database URL: http://46.202.167.198/buffex/.

在极端贫困的全球挑战中,畜牧业可以通过提高抵御力、小农生产力和市场参与度,为全球可持续发展目标做出重大贡献。印度畜牧业是世界上最大的畜牧业之一,牲畜总数为5.3582亿,占世界牲畜总数的10.7%。水牛(Bubalus bubalis)在印度和其他亚洲国家占有重要地位,特别是通过在牛奶产量方面超过牛,并提供各种有价值的产品,对他们的经济做出了贡献。水牛基因组和转录组学资源的有限性阻碍了提高其性状以增加牛奶和肉类产量的努力。为了解决这一差距,本研究采用了最先进的生物信息学工具,分析了来自公共领域数据库的23个生物项目的2429个转录组,代表了438个生物样本,代表了水牛物种(河流和沼泽)所有主要器官系统的76种不同类型的组织和细胞类型。这种详尽的基因组数据的结果导致了基于三层架构的关系水牛表达式数据库的开发,该数据库名为BuffExDb (http://46.202.167.198/buffex/)。在检索组织特异性基因(tsg)及其功能注释方面的易用性和灵活性是BuffExDb的主要特点。这是同类中第一个提供轻松导航和可过滤数据库的,使用户能够同时检查和可视化多个样本中每个组织的表达水平。它还提供了Tau评分参数,用于识别tsg及其在组织发育,维持和功能中的重要作用,通过基因本体的富集测试观察到。这项工作的详尽结果将为生物、功能和进化研究铺平道路。这种基于组织特异性机制的先验信息可用于未来的基因组研究,特别是在努力加强水牛繁殖和保护计划的关联研究中。数据库地址:http://46.202.167.198/buffex/。
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引用次数: 0
Standardized pipelines support and facilitate integration of diverse datasets at the Rat Genome Database. 标准化的管道支持并促进了大鼠基因组数据库中不同数据集的集成。
IF 3.4 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY Pub Date : 2025-01-22 DOI: 10.1093/database/baae132
Jennifer R Smith, Marek A Tutaj, Jyothi Thota, Logan Lamers, Adam C Gibson, Akhilanand Kundurthi, Varun Reddy Gollapally, Kent C Brodie, Stacy Zacher, Stanley J F Laulederkind, G Thomas Hayman, Shur-Jen Wang, Monika Tutaj, Mary L Kaldunski, Mahima Vedi, Wendy M Demos, Jeffrey L De Pons, Melinda R Dwinell, Anne E Kwitek

The Rat Genome Database (RGD) is a multispecies knowledgebase which integrates genetic, multiomic, phenotypic, and disease data across 10 mammalian species. To support cross-species, multiomics studies and to enhance and expand on data manually extracted from the biomedical literature by the RGD team of expert curators, RGD imports and integrates data from multiple sources. These include major databases and a substantial number of domain-specific resources, as well as direct submissions by individual researchers. The incorporation of these diverse datatypes is handled by a growing list of automated import, export, data processing, and quality control pipelines. This article outlines the development over time of a standardized infrastructure for automated RGD pipelines with a summary of key design decisions and a focus on lessons learned.

大鼠基因组数据库(RGD)是一个多物种知识库,集成了10个哺乳动物物种的遗传、多组学、表型和疾病数据。为了支持跨物种、多组学研究,并加强和扩展由RGD专家管理团队手动从生物医学文献中提取的数据,RGD导入并整合了来自多个来源的数据。这些包括主要数据库和大量特定领域的资源,以及个人研究人员直接提交的文件。这些不同数据类型的合并由越来越多的自动化导入、导出、数据处理和质量控制管道来处理。本文概述了自动化RGD管道标准化基础设施的开发过程,并总结了关键的设计决策和经验教训。
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引用次数: 0
A change language for ontologies and knowledge graphs. 本体和知识图的变更语言。
IF 3.4 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY Pub Date : 2025-01-22 DOI: 10.1093/database/baae133
Harshad Hegde, Jennifer Vendetti, Damien Goutte-Gattat, J Harry Caufield, John B Graybeal, Nomi L Harris, Naouel Karam, Christian Kindermann, Nicolas Matentzoglu, James A Overton, Mark A Musen, Christopher J Mungall

Ontologies and knowledge graphs (KGs) are general-purpose computable representations of some domain, such as human anatomy, and are frequently a crucial part of modern information systems. Most of these structures change over time, incorporating new knowledge or information that was previously missing. Managing these changes is a challenge, both in terms of communicating changes to users and providing mechanisms to make it easier for multiple stakeholders to contribute. To fill that need, we have created KGCL, the Knowledge Graph Change Language (https://github.com/INCATools/kgcl), a standard data model for describing changes to KGs and ontologies at a high level, and an accompanying human-readable Controlled Natural Language (CNL). This language serves two purposes: a curator can use it to request desired changes, and it can also be used to describe changes that have already happened, corresponding to the concepts of "apply patch" and "diff" commonly used for managing changes in text documents and computer programs. Another key feature of KGCL is that descriptions are at a high enough level to be useful and understood by a variety of stakeholders-e.g. ontology edits can be specified by commands like "add synonym 'arm' to 'forelimb'" or "move 'Parkinson disease' under 'neurodegenerative disease'." We have also built a suite of tools for managing ontology changes. These include an automated agent that integrates with and monitors GitHub ontology repositories and applies any requested changes and a new component in the BioPortal ontology resource that allows users to make change requests directly from within the BioPortal user interface. Overall, the KGCL data model, its CNL, and associated tooling allow for easier management and processing of changes associated with the development of ontologies and KGs. Database URL: https://github.com/INCATools/kgcl.

本体和知识图(KGs)是某些领域的通用可计算表示,例如人体解剖学,并且通常是现代信息系统的关键部分。这些结构中的大多数随着时间的推移而变化,吸收了以前缺失的新知识或信息。管理这些更改是一项挑战,既要与用户沟通更改,又要提供使多个涉众更容易做出贡献的机制。为了满足这一需求,我们创建了KGCL,知识图谱变更语言(https://github.com/INCATools/kgcl),这是一种用于在高层次上描述知识图谱和本体变更的标准数据模型,以及伴随的人类可读的受控自然语言(CNL)。这种语言有两个用途:管理员可以用它来请求所需的更改,也可以用它来描述已经发生的更改,这与通常用于管理文本文档和计算机程序中的更改的“应用补丁”和“diff”概念相对应。KGCL的另一个关键特性是描述的层次足够高,可以被各种涉众使用和理解。本体编辑可以通过“将同义词‘手臂’添加到‘前肢’”或“将‘帕金森病’移到‘神经退行性疾病’下”等命令来指定。我们还构建了一套用于管理本体更改的工具。其中包括一个自动化代理,它集成并监视GitHub本体存储库,并应用任何请求的更改,以及biopportal本体资源中的一个新组件,该组件允许用户直接从biopportal用户界面中发出更改请求。总的来说,KGCL数据模型、它的CNL和相关的工具允许更容易地管理和处理与本体和KGs开发相关的更改。
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引用次数: 0
A change language for ontologies and knowledge graphs. 本体和知识图的变更语言。
IF 3.6 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY Pub Date : 2025-01-22 DOI: 10.1093/database/baae133
Harshad Hegde, Jennifer Vendetti, Damien Goutte-Gattat, J Harry Caufield, John B Graybeal, Nomi L Harris, Naouel Karam, Christian Kindermann, Nicolas Matentzoglu, James A Overton, Mark A Musen, Christopher J Mungall

Ontologies and knowledge graphs (KGs) are general-purpose computable representations of some domain, such as human anatomy, and are frequently a crucial part of modern information systems. Most of these structures change over time, incorporating new knowledge or information that was previously missing. Managing these changes is a challenge, both in terms of communicating changes to users and providing mechanisms to make it easier for multiple stakeholders to contribute. To fill that need, we have created KGCL, the Knowledge Graph Change Language (https://github.com/INCATools/kgcl), a standard data model for describing changes to KGs and ontologies at a high level, and an accompanying human-readable Controlled Natural Language (CNL). This language serves two purposes: a curator can use it to request desired changes, and it can also be used to describe changes that have already happened, corresponding to the concepts of "apply patch" and "diff" commonly used for managing changes in text documents and computer programs. Another key feature of KGCL is that descriptions are at a high enough level to be useful and understood by a variety of stakeholders-e.g. ontology edits can be specified by commands like "add synonym 'arm' to 'forelimb'" or "move 'Parkinson disease' under 'neurodegenerative disease'." We have also built a suite of tools for managing ontology changes. These include an automated agent that integrates with and monitors GitHub ontology repositories and applies any requested changes and a new component in the BioPortal ontology resource that allows users to make change requests directly from within the BioPortal user interface. Overall, the KGCL data model, its CNL, and associated tooling allow for easier management and processing of changes associated with the development of ontologies and KGs. Database URL: https://github.com/INCATools/kgcl.

本体和知识图(KGs)是某些领域的通用可计算表示,例如人体解剖学,并且通常是现代信息系统的关键部分。这些结构中的大多数随着时间的推移而变化,吸收了以前缺失的新知识或信息。管理这些更改是一项挑战,既要与用户沟通更改,又要提供使多个涉众更容易做出贡献的机制。为了满足这一需求,我们创建了KGCL,知识图谱变更语言(https://github.com/INCATools/kgcl),这是一种用于在高层次上描述知识图谱和本体变更的标准数据模型,以及伴随的人类可读的受控自然语言(CNL)。这种语言有两个用途:管理员可以用它来请求所需的更改,也可以用它来描述已经发生的更改,这与通常用于管理文本文档和计算机程序中的更改的“应用补丁”和“diff”概念相对应。KGCL的另一个关键特性是描述的层次足够高,可以被各种涉众使用和理解。本体编辑可以通过“将同义词‘手臂’添加到‘前肢’”或“将‘帕金森病’移到‘神经退行性疾病’下”等命令来指定。我们还构建了一套用于管理本体更改的工具。其中包括一个自动化代理,它集成并监视GitHub本体存储库,并应用任何请求的更改,以及biopportal本体资源中的一个新组件,该组件允许用户直接从biopportal用户界面中发出更改请求。总的来说,KGCL数据模型、它的CNL和相关的工具允许更容易地管理和处理与本体和KGs开发相关的更改。
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引用次数: 0
Standardized pipelines support and facilitate integration of diverse datasets at the Rat Genome Database. 标准化的管道支持并促进了大鼠基因组数据库中不同数据集的集成。
IF 3.6 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY Pub Date : 2025-01-22 DOI: 10.1093/database/baae132
Jennifer R Smith, Marek A Tutaj, Jyothi Thota, Logan Lamers, Adam C Gibson, Akhilanand Kundurthi, Varun Reddy Gollapally, Kent C Brodie, Stacy Zacher, Stanley J F Laulederkind, G Thomas Hayman, Shur-Jen Wang, Monika Tutaj, Mary L Kaldunski, Mahima Vedi, Wendy M Demos, Jeffrey L De Pons, Melinda R Dwinell, Anne E Kwitek

The Rat Genome Database (RGD) is a multispecies knowledgebase which integrates genetic, multiomic, phenotypic, and disease data across 10 mammalian species. To support cross-species, multiomics studies and to enhance and expand on data manually extracted from the biomedical literature by the RGD team of expert curators, RGD imports and integrates data from multiple sources. These include major databases and a substantial number of domain-specific resources, as well as direct submissions by individual researchers. The incorporation of these diverse datatypes is handled by a growing list of automated import, export, data processing, and quality control pipelines. This article outlines the development over time of a standardized infrastructure for automated RGD pipelines with a summary of key design decisions and a focus on lessons learned.

大鼠基因组数据库(RGD)是一个多物种知识库,集成了10个哺乳动物物种的遗传、多组学、表型和疾病数据。为了支持跨物种、多组学研究,并加强和扩展由RGD专家管理团队手动从生物医学文献中提取的数据,RGD导入并整合了来自多个来源的数据。这些包括主要数据库和大量特定领域的资源,以及个人研究人员直接提交的文件。这些不同数据类型的合并由越来越多的自动化导入、导出、数据处理和质量控制管道来处理。本文概述了自动化RGD管道标准化基础设施的开发过程,并总结了关键的设计决策和经验教训。
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引用次数: 0
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