BPMN4sML: A BPMN Extension for Serverless Machine Learning. Technology Independent and Interoperable Modeling of Machine Learning Workflows and their Serverless Deployment Orchestration

Machine learning (ML) continues to permeate all layers of academia, industry and society. Despite its successes, mental frameworks to capture and represent machine learning workflows in a consistent and coherent manner are lacking. For instance, the de facto process modeling standard, Business Process Model and Notation (BPMN), managed by the Object Management Group, is widely accepted and applied. However, it is short of specific support to represent machine learning workflows. Further, the number of heterogeneous tools for deployment of machine learning solutions can easily overwhelm practitioners. Research is needed to align the process from modeling to deploying ML workflows. We analyze requirements for standard based conceptual modeling for machine learning workflows and their serverless deployment. Confronting the shortcomings with respect to consistent and coherent modeling of ML workflows in a technology independent and interoperable manner, we extend BPMN's Meta-Object Facility (MOF) metamodel and the corresponding notation and introduce BPMN4sML (BPMN for serverless machine learning). Our extension BPMN4sML follows the same outline referenced by the Object Management Group (OMG) for BPMN. We further address the heterogeneity in deployment by proposing a conceptual mapping to convert BPMN4sML models to corresponding deployment models using TOSCA. BPMN4sML allows technology-independent and interoperable modeling of machine learning workflows of various granularity and complexity across the entire machine learning lifecycle. It aids in arriving at a shared and standardized language to communicate ML solutions. Moreover, it takes the first steps toward enabling conversion of ML workflow model diagrams to corresponding deployment models for serverless deployment via TOSCA.Comment: 105 pages 3 tables 33 figure

Enriching information extraction pipelines in clinical decision support systems

Programa Oficial de Doutoramento en Tecnoloxías da Información e as Comunicacións. 5032V01[Resumo] Os estudos sanitarios de múltiples centros son importantes para aumentar a repercusión dos resultados da investigación médica debido ao número de suxeitos que poden participar neles. Para simplificar a execución destes estudos, o proceso de intercambio de datos debería ser sinxelo, por exemplo, mediante o uso de bases de datos interoperables. Con todo, a consecución desta interoperabilidade segue sendo un tema de investigación en curso, sobre todo debido aos problemas de gobernanza e privacidade dos datos. Na primeira fase deste traballo, propoñemos varias metodoloxías para optimizar os procesos de estandarización das bases de datos sanitarias. Este traballo centrouse na estandarización de fontes de datos heteroxéneas nun esquema de datos estándar, concretamente o OMOP CDM, que foi desenvolvido e promovido pola comunidade OHDSI. Validamos a nosa proposta utilizando conxuntos de datos de pacientes con enfermidade de Alzheimer procedentes de distintas institucións. Na seguinte etapa, co obxectivo de enriquecer a información almacenada nas bases de datos de OMOP CDM, investigamos solucións para extraer conceptos clínicos de narrativas non estruturadas, utilizando técnicas de recuperación de información e de procesamento da linguaxe natural. A validación realizouse a través de conxuntos de datos proporcionados en desafíos científicos, concretamente no National NLP Clinical Challenges(n2c2). Na etapa final, propuxémonos simplificar a execución de protocolos de estudos provenientes de múltiples centros, propoñendo solucións novas para perfilar, publicar e facilitar o descubrimento de bases de datos. Algunhas das solucións desenvolvidas están a utilizarse actualmente en tres proxectos europeos destinados a crear redes federadas de bases de datos de saúde en toda Europa.[Resumen] Los estudios sanitarios de múltiples centros son importantes para aumentar la repercusión de los resultados de la investigación médica debido al número de sujetos que pueden participar en ellos. Para simplificar la ejecución de estos estudios, el proceso de intercambio de datos debería ser sencillo, por ejemplo, mediante el uso de bases de datos interoperables. Sin embargo, la consecución de esta interoperabilidad sigue siendo un tema de investigación en curso, sobre todo debido a los problemas de gobernanza y privacidad de los datos. En la primera fase de este trabajo, proponemos varias metodologías para optimizar los procesos de estandarización de las bases de datos sanitarias. Este trabajo se centró en la estandarización de fuentes de datos heterogéneas en un esquema de datos estándar, concretamente el OMOP CDM, que ha sido desarrollado y promovido por la comunidad OHDSI. Validamos nuestra propuesta utilizando conjuntos de datos de pacientes con enfermedad de Alzheimer procedentes de distintas instituciones. En la siguiente etapa, con el objetivo de enriquecer la información almacenada en las bases de datos de OMOP CDM, hemos investigado soluciones para extraer conceptos clínicos de narrativas no estructuradas, utilizando técnicas de recuperación de información y de procesamiento del lenguaje natural. La validación se realizó a través de conjuntos de datos proporcionados en desafíos científicos, concretamente en el National NLP Clinical Challenges (n2c2). En la etapa final, nos propusimos simplificar la ejecución de protocolos de estudios provenientes de múltiples centros, proponiendo soluciones novedosas para perfilar, publicar y facilitar el descubrimiento de bases de datos. Algunas de las soluciones desarrolladas se están utilizando actualmente en tres proyectos europeos destinados a crear redes federadas de bases de datos de salud en toda Europa.[Abstract] Multicentre health studies are important to increase the impact of medical research findings due to the number of subjects that they are able to engage. To simplify the execution of these studies, the data-sharing process should be effortless, for instance, through the use of interoperable databases. However, achieving this interoperability is still an ongoing research topic, namely due to data governance and privacy issues. In the first stage of this work, we propose several methodologies to optimise the harmonisation pipelines of health databases. This work was focused on harmonising heterogeneous data sources into a standard data schema, namely the OMOP CDM which has been developed and promoted by the OHDSI community. We validated our proposal using data sets of Alzheimer’s disease patients from distinct institutions. In the following stage, aiming to enrich the information stored in OMOP CDM databases, we have investigated solutions to extract clinical concepts from unstructured narratives, using information retrieval and natural language processing techniques. The validation was performed through datasets provided in scientific challenges, namely in the National NLP Clinical Challenges (n2c2). In the final stage, we aimed to simplify the protocol execution of multicentre studies, by proposing novel solutions for profiling, publishing and facilitating the discovery of databases. Some of the developed solutions are currently being used in three European projects aiming to create federated networks of health databases across Europe

Knowledge Components and Methods for Policy Propagation in Data Flows

Data-oriented systems and applications are at the centre of current developments of the World Wide Web (WWW). On the Web of Data (WoD), information sources can be accessed and processed for many purposes. Users need to be aware of any licences or terms of use, which are associated with the data sources they want to use. Conversely, publishers need support in assigning the appropriate policies alongside the data they distribute. In this work, we tackle the problem of policy propagation in data flows - an expression that refers to the way data is consumed, manipulated and produced within processes. We pose the question of what kind of components are required, and how they can be acquired, managed, and deployed, to support users on deciding what policies propagate to the output of a data-intensive system from the ones associated with its input. We observe three scenarios: applications of the Semantic Web, workflow reuse in Open Science, and the exploitation of urban data in City Data Hubs. Starting from the analysis of Semantic Web applications, we propose a data-centric approach to semantically describe processes as data flows: the Datanode ontology, which comprises a hierarchy of the possible relations between data objects. By means of Policy Propagation Rules, it is possible to link data flow steps and policies derivable from semantic descriptions of data licences. We show how these components can be designed, how they can be effectively managed, and how to reason efficiently with them. In a second phase, the developed components are verified using a Smart City Data Hub as a case study, where we developed an end-to-end solution for policy propagation. Finally, we evaluate our approach and report on a user study aimed at assessing both the quality and the value of the proposed solution

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.

In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven\u27t been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or undocumented, and many resources must be queried to find potentially significant phenotypic associations. The Monarch Initiative (https://monarchinitiative.org) integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search. We develop many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic discovery and diagnostics of Mendelian diseases. Our algorithms and tools are widely used to identify animal models of human disease through phenotypic similarity, for differential diagnostics and to facilitate translational research. Launched in 2015, Monarch has grown with regards to data (new organisms, more sources, better modeling); new API and standards; ontologies (new Mondo unified disease ontology, improvements to ontologies such as HPO and uPheno); user interface (a redesigned website); and community development. Monarch data, algorithms and tools are being used and extended by resources such as GA4GH and NCATS Translator, among others, to aid mechanistic discovery and diagnostics

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.

In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven’t been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or undocumented, and many resources must be queried to find potentially significant phenotypic associations. The Monarch Initiative (https://monarchinitiative.org) integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search. We develop many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic discovery and diagnostics of Mendelian diseases. Our algorithms and tools are widely used to identify animal models of human disease through phenotypic similarity, for differential diagnostics and to facilitate translational research. Launched in 2015, Monarch has grown with regards to data (new organisms, more sources, better modeling); new API and standards; ontologies (new Mondo unified disease ontology, improvements to ontologies such as HPO and uPheno); user interface (a redesigned website); and community development. Monarch data, algorithms and tools are being used and extended by resources such as GA4GH and NCATS Translator, among others, to aid mechanistic discovery and diagnostics

The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species

In biology and biomedicine, relating phenotypic outcomes with genetic variation and environmental factors remains a challenge: patient phenotypes may not match known diseases, candidate variants may be in genes that haven’t been characterized, research organisms may not recapitulate human or veterinary diseases, environmental factors affecting disease outcomes are unknown or undocumented, and many resources must be queried to find potentially significant phenotypic associations. The Monarch Initiative (https://monarchinitiative.org) integrates information on genes, variants, genotypes, phenotypes and diseases in a variety of species, and allows powerful ontology-based search. We develop many widely adopted ontologies that together enable sophisticated computational analysis, mechanistic discovery and diagnostics of Mendelian diseases. Our algorithms and tools are widely used to identify animal models of human disease through phenotypic similarity, for differential diagnostics and to facilitate translational research. Launched in 2015, Monarch has grown with regards to data (new organisms, more sources, better modeling); new API and standards; ontologies (new Mondo unified disease ontology, improvements to ontologies such as HPO and uPheno); user interface (a redesigned website); and community development. Monarch data, algorithms and tools are being used and extended by resources such as GA4GH and NCATS Translator, among others, to aid mechanistic discovery and diagnostics

Linked Research on the Decentralised Web

This thesis is about research communication in the context of the Web. I analyse literature which reveals how researchers are making use of Web technologies for knowledge dissemination, as well as how individuals are disempowered by the centralisation of certain systems, such as academic publishing platforms and social media. I share my findings on the feasibility of a decentralised and interoperable information space where researchers can control their identifiers whilst fulfilling the core functions of scientific communication: registration, awareness, certification, and archiving. The contemporary research communication paradigm operates under a diverse set of sociotechnical constraints, which influence how units of research information and personal data are created and exchanged. Economic forces and non-interoperable system designs mean that researcher identifiers and research contributions are largely shaped and controlled by third-party entities; participation requires the use of proprietary systems. From a technical standpoint, this thesis takes a deep look at semantic structure of research artifacts, and how they can be stored, linked and shared in a way that is controlled by individual researchers, or delegated to trusted parties. Further, I find that the ecosystem was lacking a technical Web standard able to fulfill the awareness function of research communication. Thus, I contribute a new communication protocol, Linked Data Notifications (published as a W3C Recommendation) which enables decentralised notifications on the Web, and provide implementations pertinent to the academic publishing use case. So far we have seen decentralised notifications applied in research dissemination or collaboration scenarios, as well as for archival activities and scientific experiments. Another core contribution of this work is a Web standards-based implementation of a clientside tool, dokieli, for decentralised article publishing, annotations and social interactions. dokieli can be used to fulfill the scholarly functions of registration, awareness, certification, and archiving, all in a decentralised manner, returning control of research contributions and discourse to individual researchers. The overarching conclusion of the thesis is that Web technologies can be used to create a fully functioning ecosystem for research communication. Using the framework of Web architecture, and loosely coupling the four functions, an accessible and inclusive ecosystem can be realised whereby users are able to use and switch between interoperable applications without interfering with existing data. Technical solutions alone do not suffice of course, so this thesis also takes into account the need for a change in the traditional mode of thinking amongst scholars, and presents the Linked Research initiative as an ongoing effort toward researcher autonomy in a social system, and universal access to human- and machine-readable information. Outcomes of this outreach work so far include an increase in the number of individuals self-hosting their research artifacts, workshops publishing accessible proceedings on the Web, in-the-wild experiments with open and public peer-review, and semantic graphs of contributions to conference proceedings and journals (the Linked Open Research Cloud). Some of the future challenges include: addressing the social implications of decentralised Web publishing, as well as the design of ethically grounded interoperable mechanisms; cultivating privacy aware information spaces; personal or community-controlled on-demand archiving services; and further design of decentralised applications that are aware of the core functions of scientific communication

Provenance of "after the fact" harmonised community-based demographic and HIV surveillance data from ALPHA cohorts

Background: Data about data, metadata, for describing Health and Demographic Surveillance System (HDSS) data have often received insufficient attention. This thesis studied how to develop provenance metadata within the context of HDSS data harmonisation - the network for Analysing Longitudinal Population-based HIV/ AIDS data on Africa (ALPHA). Technologies from the data documentation community were customised, among them: A process model - Generic Longitudinal Business Process Model (GLBPM), two metadata standards - Data Documentation Initiative (DDI) and Standard for Data and Metadata eXchange (SDMX) and a data transformations description language - Structured Data Transform Language (SDTL). Methods: A framework with three complementary facets was used: Creating a recipe for annotating primary HDSS data using the GLBPM and DDI; Approaches for documenting data transformations. At a business level, prospective and retrospective documentation using GLBPM and DDI and retrospectively recovering the more granular details using SDMX and SDTL; Requirements analysis for a user-friendly provenance metadata browser. Results: A recipe for the annotation of HDSS data was created outlining considerations to guide HDSS on metadata entry, staff training and software costs. Regarding data transformations, at a business level, a specialised process model for the HDSS domain was created. It has algorithm steps for each data transformation sub-process and data inputs and outputs. At a lower level, the SDMX and SDTL captured about 80% (17/21) of the variable level transformations. The requirements elicitation study yielded requirements for a provenance metadata browser to guide developers. Conclusions: This is a first attempt ever at creating detailed metadata for this resource or any other similar resources in this field. HDSS can implement these recipes to document their data. This will increase transparency and facilitate reuse thus potentially bringing down costs of data management. It will arguably promote the longevity and wide and accurate use of these data