A data-driven approach to violin making.
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ABSTRACT:
SUBMITTER: Gonzalez S
PROVIDER: S-EPMC8096844 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundThe increasing amount of molecular data and knowledge about genomic alterations from next-generation sequencing processes together allow for a greater understanding of individual patients, thereby advancing precision medicine. Molecular tumour boards feature multidisciplinary teams of clinical experts who meet to discuss complex individual cancer cases. Preparing the meetings is a manual and time-consuming process.PurposeTo design a clinical decision support system to improve the multimodal data interpretation in molecular tumour board meetings for lymphoma patients at Karolinska University Hospital, Stockholm, Sweden. We investigated user needs and system requirements, explored the employment of artificial intelligence, and evaluated the proposed design with primary stakeholders.MethodsDesign science methodology was used to form and evaluate the proposed artefact. Requirements elicitation was done through a scoping review followed by five semi-structured interviews. We used UML Use Case diagrams to model user interaction and UML Activity diagrams to inform the proposed flow of control in the system. Additionally, we modelled the current and future workflow for MTB meetings and its proposed machine learning pipeline. Interactive sessions with end-users validated the initial requirements based on a fictive patient scenario which helped further refine the system.ResultsThe analysis showed that an interactive secure Web-based information system supporting the preparation of the meeting, multidisciplinary discussions, and clinical decision-making could address the identified requirements. Integrating artificial intelligence via continual learning and multimodal data fusion were identified as crucial elements that could provide accurate diagnosis and treatment recommendations.ImpactOur work is of methodological importance in that using artificial intelligence for molecular tumour boards is novel. We provide a consolidated proof-of-concept system that could support the end-to-end clinical decision-making process and positively and immediately impact patients.ConclusionAugmenting a digital decision support system for molecular tumour boards with retrospective patient material is promising. This generates realistic and constructive material for human learning, and also digital data for continual learning by data-driven artificial intelligence approaches. The latter makes the future system adaptable to human bias, improving adequacy and decision quality over time and over tasks, while building and maintaining a digital log.
| S-EPMC9705761 | biostudies-literature
Project description:BackgroundScientists striving to unlock mysteries within complex biological systems face myriad barriers in effectively integrating available information to enhance their understanding. While experimental techniques and available data sources are rapidly evolving, useful information is dispersed across a variety of sources, and sources of the same information often do not use the same format or nomenclature. To harness these expanding resources, scientists need tools that bridge nomenclature differences and allow them to integrate, organize, and evaluate the quality of information without extensive computation.ResultsSidekick, a genomic data driven analysis and decision making framework, is a web-based tool that provides a user-friendly intuitive solution to the problem of information inaccessibility. Sidekick enables scientists without training in computation and data management to pursue answers to research questions like "What are the mechanisms for disease X" or "Does the set of genes associated with disease X also influence other diseases." Sidekick enables the process of combining heterogeneous data, finding and maintaining the most up-to-date data, evaluating data sources, quantifying confidence in results based on evidence, and managing the multi-step research tasks needed to answer these questions. We demonstrate Sidekick's effectiveness by showing how to accomplish a complex published analysis in a fraction of the original time with no computational effort using Sidekick.ConclusionsSidekick is an easy-to-use web-based tool that organizes and facilitates complex genomic research, allowing scientists to explore genomic relationships and formulate hypotheses without computational effort. Possible analysis steps include gene list discovery, gene-pair list discovery, various enrichments for both types of lists, and convenient list manipulation. Further, Sidekick's ability to characterize pairs of genes offers new ways to approach genomic analysis that traditional single gene lists do not, particularly in areas such as interaction discovery.
| S-EPMC3022632 | biostudies-literature
Project description:The biggest change brought about by the "era of big data" to health in general, and epidemiology in particular, relates arguably not to the volume of data encountered, but to its variety. An increasing number of new data sources, including many not originally collected for health purposes, are now being used for epidemiological inference and contextualization. Combining evidence from multiple data sources presents significant challenges, but discussions around this subject often confuse issues of data access and privacy, with the actual technical challenges of data integration and interoperability. We review some of the opportunities for connecting data, generating information, and supporting decision-making across the increasingly complex "variety" dimension of data in population health, to enable data-driven surveillance to go beyond simple signal detection and support an expanded set of surveillance goals.
| S-EPMC7994248 | biostudies-literature
Project description:Left ventricular false tendons are thin, fibromuscular structures which traverse the left ventricular cavity. They are thought to be intracavitary radiations of the bundle of His. Usually these tendons span between the interventricular septum and the lateral wall or a papillary muscle. They have been known to be a source of innocent and musical murmurs.In this case report a peculiar left ventricular false tendon is shown-one extending between the two papillary muscles, giving the appearance of a musical note. During ventricular diastole the tendon is pulled taut between the two heads of the papillary muscles and during ventricular systole the tendon relaxes. The echocardiographic characteristics and possible long term implications are discussed.
| S-EPMC2941135 | biostudies-literature
Project description:BackgroundThe COVID-19 pandemic has led to a high interest in mathematical models describing and predicting the diverse aspects and implications of the virus outbreak. Model results represent an important part of the information base for the decision process on different administrative levels. The Robert-Koch-Institute (RKI) initiated a project whose main goal is to predict COVID-19-specific occupation of beds in intensive care units: Steuerungs-Prognose von Intensivmedizinischen COVID-19 Kapazitäten (SPoCK). The incidence of COVID-19 cases is a crucial predictor for this occupation.MethodsWe developed a model based on ordinary differential equations for the COVID-19 spread with a time-dependent infection rate described by a spline. Furthermore, the model explicitly accounts for weekday-specific reporting and adjusts for reporting delay. The model is calibrated in a purely data-driven manner by a maximum likelihood approach. Uncertainties are evaluated using the profile likelihood method. The uncertainty about the appropriate modeling assumptions can be accounted for by including and merging results of different modelling approaches. The analysis uses data from Germany describing the COVID-19 spread from early 2020 until March 31st, 2021.ResultsThe model is calibrated based on incident cases on a daily basis and provides daily predictions of incident COVID-19 cases for the upcoming three weeks including uncertainty estimates for Germany and its subregions. Derived quantities such as cumulative counts and 7-day incidences with corresponding uncertainties can be computed. The estimation of the time-dependent infection rate leads to an estimated reproduction factor that is oscillating around one. Data-driven estimation of the dark figure purely from incident cases is not feasible.ConclusionsWe successfully implemented a procedure to forecast near future COVID-19 incidences for diverse subregions in Germany which are made available to various decision makers via an interactive web application. Results of the incidence modeling are also used as a predictor for forecasting the need of intensive care units.
| S-EPMC9019290 | biostudies-literature
Project description:A key problem in domain adaptation is determining what to transfer across different domains. We propose a data-driven method to represent these changes across multiple source domains and perform unsupervised domain adaptation. We assume that the joint distributions follow a specific generating process and have a small number of identifiable changing parameters, and develop a data-driven method to identify the changing parameters by learning low-dimensional representations of the changing class-conditional distributions across multiple source domains. The learned low-dimensional representations enable us to reconstruct the target-domain joint distribution from unlabeled target-domain data, and further enable predicting the labels in the target domain. We demonstrate the efficacy of this method by conducting experiments on synthetic and real datasets.
| S-EPMC6730632 | biostudies-literature
Project description:The design and use of a metadata-driven data repository for research data management is described. Metadata is collected automatically during the submission process whenever possible and is registered with DataCite in accordance with their current metadata schema, in exchange for a persistent digital object identifier. Two examples of data preview are illustrated, including the demonstration of a method for integration with commercial software that confers rich domain-specific data analytics without introducing customisation into the repository itself.
| S-EPMC5265225 | biostudies-literature
Project description:Urban road congestions change both temporally and spatially. They are essentially caused by network bottlenecks. Therefore, understanding bottleneck dynamics is critical in the goal of reasonably allocating transportation resources. In general, a typical bottleneck experiences the stages of formation, propagation and dispersion. In order to understand the three stages of a bottle neck and how the bottleneck moves on a road network, traffic flow data can be used to reconstruct these dynamics. However, raw traffic flow data is usually flawed in many ways. For instance some portion of data may be missing due to the failure of data collection devices, or some random factors in the data make it hard to identify real bottlenecks. In this paper a "user voting method" is proposed to deal with such raw-data-related issues. In this method, road links are ranked according to the weighed sum of certain performance measures and the links that are ranked relatively high are regarded as recurrent bottlenecks in a network, and several bottlenecks form a bottleneck area. A series of bottleneck parameters can be defined based on the identified bottleneck areas, such as bottleneck coverage, bottleneck link length, etc. Identifying bottleneck areas and calculating the bottleneck parameters for each time interval can reflect the evolution of the bottlenecks and also help trace how the bottlenecks move.
| S-EPMC4881905 | biostudies-literature
Project description:BackgroundAs the most stable and experimentally accessible epigenetic mark, DNA methylation is of great interest to the research community. The landscape of DNA methylation across tissues, through development and in disease pathogenesis is not yet well characterized. Thus there is a need for rapid and cost effective methods for assessing genome-wide levels of DNA methylation. The Illumina Infinium HumanMethylation450 (450K) BeadChip is a very useful addition to the available methods for DNA methylation analysis but its complex design, incorporating two different assay methods, requires careful consideration. Accordingly, several normalization schemes have been published. We have taken advantage of known DNA methylation patterns associated with genomic imprinting and X-chromosome inactivation (XCI), in addition to the performance of SNP genotyping assays present on the array, to derive three independent metrics which we use to test alternative schemes of correction and normalization. These metrics also have potential utility as quality scores for datasets.ResultsThe standard index of DNA methylation at any specific CpG site is ? = M/(M + U + 100) where M and U are methylated and unmethylated signal intensities, respectively. Betas (?s) calculated from raw signal intensities (the default GenomeStudio behavior) perform well, but using 11 methylomic datasets we demonstrate that quantile normalization methods produce marked improvement, even in highly consistent data, by all three metrics. The commonly used procedure of normalizing betas is inferior to the separate normalization of M and U, and it is also advantageous to normalize Type I and Type II assays separately. More elaborate manipulation of quantiles proves to be counterproductive.ConclusionsCareful selection of preprocessing steps can minimize variance and thus improve statistical power, especially for the detection of the small absolute DNA methylation changes likely associated with complex disease phenotypes. For the convenience of the research community we have created a user-friendly R software package called wateRmelon, downloadable from bioConductor, compatible with the existing methylumi, minfi and IMA packages, that allows others to utilize the same normalization methods and data quality tests on 450K data.
| S-EPMC3769145 | biostudies-literature
Project description:BackgroundData quality assessment is important but complex and task dependent. Identifying suitable measurement methods and reference ranges for assessing their results is challenging. Manually inspecting the measurement results and current data driven approaches for learning which results indicate data quality issues have considerable limitations, e.g. to identify task dependent thresholds for measurement results that indicate data quality issues.ObjectivesTo explore the applicability and potential benefits of a data driven approach to learn task dependent knowledge about suitable measurement methods and assessment of their results. Such knowledge could be useful for others to determine whether a local data stock is suitable for a given task.MethodsWe started by creating artificial data with previously defined data quality issues and applied a set of generic measurement methods on this data (e.g. a method to count the number of values in a certain variable or the mean value of the values). We trained decision trees on exported measurement methods' results and corresponding outcome data (data that indicated the data's suitability for a use case). For evaluation, we derived rules for potential measurement methods and reference values from the decision trees and compared these regarding their coverage of the true data quality issues artificially created in the dataset. Three researchers independently derived these rules. One with knowledge about present data quality issues and two without.ResultsOur self-trained decision trees were able to indicate rules for 12 of 19 previously defined data quality issues. Learned knowledge about measurement methods and their assessment was complementary to manual interpretation of measurement methods' results.ConclusionsOur data driven approach derives sensible knowledge for task dependent data quality assessment and complements other current approaches. Based on labeled measurement methods' results as training data, our approach successfully suggested applicable rules for checking data quality characteristics that determine whether a dataset is suitable for a given task.
| S-EPMC8561935 | biostudies-literature