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Biology subjects

Abeysinghe, R.

Publications and source records attributed to Abeysinghe, R..

5 recordsLinked to original sources

A layered standards framework for integrating single-cell and spatial omics data into brain cell atlases

The BRAIN Initiative Cell Atlas Network (BICAN) is generating large-scale multimodal datasets to profile cell types in the human, non-human primate, and mouse brain. The diversity of single-cell and spatial transcriptomic and epigenomic assays, combined with varied experimental contexts, multiple data-generating laboratories and distributed infrastructure, poses substantial challenges for data integration and reuse in BICAN. To address this, we implemented a standards framework that enables layered integration of these data into knowledge-ready products for interoperable brain cell atlases. This framework organizes data based on three progressively structured layers. First, we introduced an assay-agnostic modeling layer that unifies the representation of single-cell and spatial omics data using a common set of biological entities and processes assessed by diverse experimental techniques. Second, we implemented harmonized metadata standards that capture key experimental features linked to biospecimen provenance across heterogeneous tissue sources, species, and preparations, supporting integration and validation while minimizing burden on data contributors. Third, we present an extensible representation for data-driven cell type taxonomies that integrates molecular data with annotations, ontology mappings, and evidence. Together, these contributions represent an end-to-end framework that transforms heterogeneous datasets into structured, interoperable resources that support broad community reuse via mapping algorithms, annotation systems, and visualization platforms. This approach links biospecimen provenance with cell-level outputs and embeds these in a standardized taxonomy format, enabling downstream applications such as cross-dataset integration, reference mapping, and knowledge-driven analysis. More broadly, our work demonstrates a generalizable strategy for enabling an efficient data-to-knowledge pipeline in a large-scale consortium setting.

genomics↗

Tissue-to-Bytes: A Catalytic Digital Twin Platform for Consortium-Scale Integration of Single-Cell Omics Data in BRAIN Initiative Cell Atlas Network

Monolithic Electronic Health Record (EHR) architectures remain fundamentally misaligned with high-resolution, specialty-specific clinical workflows, contributing to significant physician burnout and challangies in secondary use of data. This study introduces the Enterprise Health Twin (EHT) framework, a paradigm grounded in the Digital Twin concept, with the goal to transform static clinical ledgers into dynamic decision-support systems. The EHT establishes continuous bidirectional feedback (feed-forward ingestion and feed-backward decision support) between the physical entities of clinical workflows and the digital counterparts of interfaces reflecting the evolving states of the workflow, for each individual patient in the EHT. We conceptualized, prototyped, and operationalized the EHT framework for epilepsy care for seven years, in production, at the point of care. Deployed at the Epilepsy Center of the University of Texas Health Science Center at Houston, a [~]400% increase productivity has been achieved in specialized surgical evaluation throughput without additional staffing. The EHT achieved de novo capture of ontology-anchored structured data at the point of care, mitigating cognitive load while growing the volume of high-resolution, annotated longitudinal datasets for clinical research, and driving an increase of care velocity in a learning healthcare system.

neuroscience↗

VO: The Vaccine Ontology

With the widespread use of vaccines in research and clinical settings, there is an urgent need to standardize vaccine representation, integrate information across diverse vaccine types, and support computer-assisted reasoning. Accordingly, we have since 2007 developed the community-based Vaccine Ontology (VO), which aligns with the Basic Formal Ontology and adheres to OBO Foundry principles. VO models ontologically vaccines, vaccine components, vaccine immune responses, vaccine investigation studies and other vaccine-related topics. VO represents more than 10,000 vaccines targeting 289 infectious pathogens and cancers in humans and over 30 nonhuman animal species. VO provides mappings to external resources such as RxNorm, CVX, FDA, and USDA. Various VO use cases exist. VO facilitates vaccine standardization in resources such as the VIOLIN vaccine database, ImmPort, and the Vaccine Adjuvant Compendium (VAC). Semantic queries can be made to query VO. VO has been shown to enhance experimental and clinical vaccine data analysis and vaccine literature mining. Overall, VO standardizes vaccine modeling and representation and greatly supports vaccine AI research in the Semantic Web era.

bioinformatics↗

Mapping and Harmonization of CVX vaccine terms tothe Vaccine Ontology

BackgroundWith many vaccines developed and used, it is critical to standardize vaccine information. The OHDSI OMOP Common Data Model (CDM), widely used to support EHR data integration and analysis, leverages CVX, RxNorm, and RxNorm Extension codes to standardize vaccine-related records. However, these terminologies lack robust semantic relations, making the vaccine classification ineffective in OMOP CDM. To address this issue, our OHDSI Vaccine Vocabulary Working Group proposes to use the Vaccine Ontology (VO) to map these standards and build up its own semantic relations. As a first study of the work, we performed the mapping and alignment of the Vaccine Administered (CVX) codes with the VO using a combination of semi-automatic and manual mapping methods. ResultsA total of 273 CVX terms were first collected and classified. A high-level VO design pattern and an exact one-to-one mapping strategy were developed to guide the CVX-to-VO term mapping. To facilitate the manual mapping and harmonization process, we also developed and evaluated three semi-automated mapping approaches utilizing lexical and semantic information of vaccine concepts to map CVX to VO. These approaches suggested candidate VO mappings for CVX terms and also indicated CVX terms that were unmappable to VO and required new term additions to VO. The application of the best approach to the 2022-10-05 release of VO achieved an accuracy of 85.55% for its suggestions. The suggestions made by the semi-automated approaches were taken into account to further enhance the mappings, which led to our eventual mapping of all CVX terms to the latest version of VO. We innovatively proposed the inclusion of the passive vaccine branch in VO, which includes 24 immunoglobulins and antitoxins from CVX as passive vaccines. A specific CVX-VO OWL file was developed and added to the VO GitHub. Use case queries were developed to demonstrate its support for computer-assisted queries of vaccine groups based on CVX-VO hierarchies. ConclusionAll CVX terms were mapped to the VO using our combined semi-automatic and manual mapping methods. The mapped results enhanced semantic vaccine classification, providing a basis for further OMOP vaccine classification and EHR data analysis.

bioinformatics↗

Repetition of deliberate self-poisoning in rural Sri Lanka

Repetition of deliberate self harm is an important predictor of subsequent suicide. Repetition rates in Asian countries appear to be significantly lower than in western high income countries. The reason for these reported differences is not clear and has been suggested to due methodological differences or the impact of access to more lethal means of self harm. This prospective study determines the rates and demographic pattern of deliberate self-poisoning, suicide and fatal and non fatal repeated deliberate self-poisoning in rural Sri Lanka.\n\nDetails of deliberate self poisoning admission in all hospitals (n=46) and suicides reported to all the police stations (n=28) of a rural district were collected for 3 years, 2011-2013. Demographic details of the cohort of deliberate self-poisoning patients admitted to all hospitals in 2011 (N=4022), were screened to link with patient records and police reports of successive two years with high sensitivity using a computer program and manual matching was performed with higher specificity. Life time repetition was assessed in a randomly selected subset of DSP patients (n=438).\n\nThere were 15,914 DSP admissions and 1078 suicides during the study period. Within the study area the deliberate self poisoning and suicide population incidences were, 248.3/100,000 and 20.7/100,000 in 2012. Repetition rate for four weeks, one-year and two-years were 1.9% (95% CI 1.5-2.3%), 5.7% (95% CI 5.0 to 6.4) and 7.9% (95% CI 7.1 to 8.8) respectively. The median interval between two attempts were 92 (IQR 10 - 238) and 191 (IQR 29 - 419.5) days for the one and two-year repetition groups. The majority of patients used the same poison in the repeat attempt. Age and hospital stay of individuals with repetitive events were not significantly different from those who had no repetitive events. The two-year rate for suicide following DSP was 0.7% (95% CI 0.4-0.9%). Reported life time history of deliberate self harm attempts was 9.5% (95% CI 6.7-12.2%).\n\nThe low comparative repetition rates in rural Sri Lanka was not explained by higher rates of suicide or access to more lethal means or differences in methodology.

epidemiology↗