论文标题

人体公共坐标框架的构建和使用,包括临床,语义和空间本体

Construction and Usage of a Human Body Common Coordinate Framework Comprising Clinical, Semantic, and Spatial Ontologies

论文作者

Börner, Katy, Quardokus, Ellen M., Herr II, Bruce W., Cross, Leonard E., Record, Elizabeth G., Ju, Yingnan, Bueckle, Andreas D., Sluka, James P., Silverstein, Jonathan C., Browne, Kristen M., Jain, Sanjay, Wasserfall, Clive H., Jorgensen, Marda L., Spraggins, Jeffrey M., Patterson, Nathan H., Musen, Mark A., Weber, Griffin M.

论文摘要

美国国立卫生研究院(NIH)人类生物分子地图集计划(Hubmap)旨在创建健康人体所有细胞的全面高分辨率地图集。美国各地的多个实验室正在收集来自性别,年龄和体型不同的捐赠者器官的组织标本。将这些样品得出的数据集成和协调,并将它们“映射”到一个共同的三维(3D)空间中是一个主要挑战。使这一可能的关键是“通用坐标框架”(CCF),该框架为整个身体提供了语义注释的3D参考系统。 CCF使贡献者能够在通用空间参考系统中使用“注册”标本和数据集,并支持一种标准化的方式,以空间和语义上的显式方式查询和“探索”数据。 [...]本文描述了对人体的CCF的构建和用法及其在Hubmap中的参考实施。 CCF由(1)CCF临床本体论组成,该本体提供了有关标本和供体的元数据(“ WHO”); (2)CCF语义本体论,描述了样本来自的身体部分,并详细介绍了解剖结构,细胞类型和生物标志物(ASCT+B); (3)CCF空间本体,该本体指示组织样品位于3D坐标系统中。第一个Hubmap门户版本已经实现了所有三个CCF本体的初始版本。它被组织映射中心成功使用,以语义注释并在空间上注册48个肾脏和脾组织块。可以通过Hubmap门户中的CCF用户界面在其临床,语义和空间上下文中查询和探索块。

The National Institutes of Health's (NIH) Human Biomolecular Atlas Program (HuBMAP) aims to create a comprehensive high-resolution atlas of all the cells in the healthy human body. Multiple laboratories across the United States are collecting tissue specimens from different organs of donors who vary in sex, age, and body size. Integrating and harmonizing the data derived from these samples and 'mapping' them into a common three-dimensional (3D) space is a major challenge. The key to making this possible is a 'Common Coordinate Framework' (CCF), which provides a semantically annotated, 3D reference system for the entire body. The CCF enables contributors to HuBMAP to 'register' specimens and datasets within a common spatial reference system, and it supports a standardized way to query and 'explore' data in a spatially and semantically explicit manner. [...] This paper describes the construction and usage of a CCF for the human body and its reference implementation in HuBMAP. The CCF consists of (1) a CCF Clinical Ontology, which provides metadata about the specimen and donor (the 'who'); (2) a CCF Semantic Ontology, which describes 'what' part of the body a sample came from and details anatomical structures, cell types, and biomarkers (ASCT+B); and (3) a CCF Spatial Ontology, which indicates 'where' a tissue sample is located in a 3D coordinate system. An initial version of all three CCF ontologies has been implemented for the first HuBMAP Portal release. It was successfully used by Tissue Mapping Centers to semantically annotate and spatially register 48 kidney and spleen tissue blocks. The blocks can be queried and explored in their clinical, semantic, and spatial context via the CCF user interface in the HuBMAP Portal.

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