Construction, Deployment, and Usage of the Human Reference Atlas Knowledge Graph for Linked Open Data DOI Creative Commons
Andreas Bueckle, Bruce W. Herr, Josef Hardi

и другие.

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Дек. 23, 2024

Abstract The Human Reference Atlas (HRA) for the healthy, adult body is developed by a team of international, interdisciplinary experts across 20+ consortia. It provides standard terminologies and data structures describing specimens, biological structures, spatial positions experimental datasets ontology-linked reference anatomical (AS), cell types (CT), biomarkers (B). We introduce HRA Knowledge Graph (KG) as central resource v2.2, supporting cross-scale, queries to Resource Description Framework graphs using SPARQL. In December 2024, KG covered 71 organs with 5,800 AS, 2,268 CTs, 2,531 Bs; it had 10,064,033 nodes, 171,250,177 edges, size 125.84 GB. comprises 13 Digital Objects (DOs) Common Coordinate Ontology standardize core concepts relationships DOs. (1) provide code construction; (2) detail deployment Linked Open Data principles; (3) illustrate usage via application programming interfaces, user products. A companion website at https://cns-iu.github.io/hra-kg-supporting-information .

Язык: Английский

Vasculature segmentation in 3D hierarchical phase-contrast tomography images of human kidneys DOI Creative Commons
Yashvardhan Jain, Claire Walsh, Ekin Yağış

и другие.

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Авг. 26, 2024

Abstract Efficient algorithms are needed to segment vasculature in new three-dimensional (3D) medical imaging datasets at scale for a wide range of research and clinical applications. Manual segmentation vessels images is time-consuming expensive. Computational approaches more scalable but have limitations accuracy. We organized global machine learning competition, engaging 1,401 participants, help develop deep methods 3D blood vessel segmentation. This paper presents detailed analysis the top-performing solutions using manually curated Hierarchical Phase-Contrast Tomography human kidney, focusing on accuracy morphological analysis, thereby establishing benchmark future studies within phase-contrast tomography imaging.

Язык: Английский

Процитировано

3

A general strategy for generating expert-guided, simplified views of ontologies DOI Creative Commons
Anita R. Caron, Aleix Puig-Barbe, Ellen M. Quardokus

и другие.

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Дек. 18, 2024

Abstract Annotation with widely used, well-structured ontologies, combined the use of ontology-aware software tools, ensures data and analyses are Findable, Accessible, Interoperable Reusable (FAIR). Standardized terms synonyms support lexical search. Ontology structure supports biologically meaningful grouping annotations (typically by location type). However, there significant barriers to adoption ontologies researchers resource developers. One barrier is complexity. Ontologies serving diverse communities often more complex than needed for individual applications. It common atlases attempt their own simplifications manually constructing hierarchies linked but these typically include relationship types that not suitable annotations. Here, we present a suite tools validating user against ontology structure, using them generate graphical reports discussion views tailored needs HuBMAP Human Reference Atlas, Developmental Cell Atlas. In both cases, validation source corrections content hierarchies.

Язык: Английский

Процитировано

3

Atlases galore: where to next? DOI

Vivien Marx

Nature Methods, Год журнала: 2024, Номер 21(12), С. 2203 - 2208

Опубликована: Дек. 1, 2024

Язык: Английский

Процитировано

1

Discovery of optimal cell type classification marker genes from single cell RNA sequencing data DOI Creative Commons
Angela Liu,

Beverly Peng,

Ajith V. Pankajam

и другие.

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Апрель 27, 2024

Abstract The use of single cell/nucleus RNA sequencing (scRNA-seq) technologies that quantitively describe cell transcriptional phenotypes is revolutionizing our understanding biology, leading to new insights in type identification, disease mechanisms, and drug development. tremendous growth scRNA-seq data has posed challenges efficiently characterizing data-driven types identifying quantifiable marker genes for classification. machine learning explainable artificial intelligence emerged as an effective approach study large-scale data. NS-Forest a random forest learning-based algorithm aims provide scalable solution identify minimum combinations necessary sufficient capture identity with maximum classification accuracy. Here, we the latest version, version 4.0 its companion Python package ( https://github.com/JCVenterInstitute/NSForest ), several enhancements select gene exhibit highly selective expression patterns among closely related more perform selection atlases millions cells. By modularizing final decision tree step, v4.0 can be used compare performance user-defined computationally-derived based on classifiers. To quantify how well identified markers desired pattern being exclusively expressed at high levels within their target types, introduce On-Target Fraction metric ranges from 0 1, 1 assigned are only not cells any other types. outperforms previous versions ability higher values approaches significantly F-beta scores when applied datasets three human organs - brain, kidney, lung.

Язык: Английский

Процитировано

0

Discovery of optimal cell type classification marker genes from single cell RNA sequencing data DOI Creative Commons
Angela Liu,

Beverly Peng,

Ajith V. Pankajam

и другие.

Deleted Journal, Год журнала: 2024, Номер 1(1)

Опубликована: Ноя. 4, 2024

Abstract Background The use of single cell/nucleus RNA sequencing (scRNA-seq) technologies that quantitively describe cell transcriptional phenotypes is revolutionizing our understanding biology, leading to new insights in type identification, disease mechanisms, and drug development. tremendous growth scRNA-seq data has posed challenges efficiently characterizing data-driven types identifying quantifiable marker genes for classification. machine learning explainable artificial intelligence emerged as an effective approach study large-scale data. Methods NS-Forest a random forest learning-based algorithm aims provide scalable solution identify minimum combinations necessary sufficient capture identity with maximum classification accuracy. Here, we the latest version, version 4.0 its companion Python package ( https://github.com/JCVenterInstitute/NSForest ), several enhancements select gene exhibit highly selective expression patterns among closely related more perform selection atlases millions cells. Results By modularizing final decision tree step, v4.0 can be used compare performance user-defined computationally-derived based on classifiers. To quantify how well identified markers desired pattern being exclusively expressed at high levels within their target types, introduce On-Target Fraction metric ranges from 0 1, 1 assigned are only not cells any other types. outperforms previous versions simulation studies ability higher values real data, approaches significantly F-beta scores when applied datasets three human organs—brain, kidney, lung. Discussion Finally, discuss potential cases genes, including designing spatial transcriptomics panels semantic representation biomedical ontologies, broad user community.

Язык: Английский

Процитировано

0

Construction, Deployment, and Usage of the Human Reference Atlas Knowledge Graph for Linked Open Data DOI Creative Commons
Andreas Bueckle, Bruce W. Herr, Josef Hardi

и другие.

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2024, Номер unknown

Опубликована: Дек. 23, 2024

Abstract The Human Reference Atlas (HRA) for the healthy, adult body is developed by a team of international, interdisciplinary experts across 20+ consortia. It provides standard terminologies and data structures describing specimens, biological structures, spatial positions experimental datasets ontology-linked reference anatomical (AS), cell types (CT), biomarkers (B). We introduce HRA Knowledge Graph (KG) as central resource v2.2, supporting cross-scale, queries to Resource Description Framework graphs using SPARQL. In December 2024, KG covered 71 organs with 5,800 AS, 2,268 CTs, 2,531 Bs; it had 10,064,033 nodes, 171,250,177 edges, size 125.84 GB. comprises 13 Digital Objects (DOs) Common Coordinate Ontology standardize core concepts relationships DOs. (1) provide code construction; (2) detail deployment Linked Open Data principles; (3) illustrate usage via application programming interfaces, user products. A companion website at https://cns-iu.github.io/hra-kg-supporting-information .

Язык: Английский

Процитировано

0