Data Science Applications in Circular Economy: Trends, Status, and Future.

The circular economy (CE) aims to decouple the growth of the economy from the consumption of finite resources through strategies, such as eliminating waste, circulating materials in use, and regenerating natural systems. Due to the rapid development of data science (DS), promising progress has been made in the transition toward CE in the past decade. DS offers various methods to achieve accurate predictions, accelerate product sustainable design, prolong asset life, optimize the infrastructure needed to circulate materials, and provide evidence-based insights. Despite the exciting scientific advances in this field, there still lacks a comprehensive review on this topic to summarize past achievements, synthesize knowledge gained, and navigate future research directions. In this paper, we try to summarize how DS accelerated the transition to CE. We conducted a critical review of where and how DS has helped the CE transition with a focus on four areas including (1) characterizing socioeconomic metabolism, (2) reducing unnecessary waste generation by enhancing material efficiency and optimizing product design, (3) extending product lifetime through repair, and (4) facilitating waste reuse and recycling. We also introduced the limitations and challenges in the current applications and discussed opportunities to provide a clear roadmap for future research in this field.

Which Data Analytics Tool Should We Use to Evaluate Risk in Upstream Drug Supply Chains?

Drug shortages are a persistent and serious problem in the United States, affecting patient care and health care costs. This article canvasses factors that contribute to drug shortages, such as manufacturing complexity, price, and quality inspection records. This article further proposes an early warning system and payment, contracting, and pricing innovations to mitigate drug shortages and offers data-driven recommendations to stakeholders looking to protect the supply of quality medicines.

Remote sensing image information extraction based on Compensated Fuzzy Neural Network and big data analytics.

Medical imaging AI systems and big data analytics have attracted much attention from researchers of industry and academia. The application of medical imaging AI systems and big data analytics play an important role in the technology of content based remote sensing (CBRS) development. Environmental data, information, and analysis have been produced promptly using remote sensing (RS). The method for creating a useful digital map from an image data set is called image information extraction. Image information extraction depends on target recognition (shape and color). For low-level image attributes like texture, Classifier-based Retrieval(CR) techniques are ineffective since they categorize the input images and only return images from the determined classes of RS. The issues mentioned earlier cannot be handled by the existing expertise based on a keyword/metadata remote sensing data service model. To get over these restrictions, Fuzzy Class Membership-based Image Extraction (FCMIE), a technology developed for Content-Based Remote Sensing (CBRS), is suggested. The compensation fuzzy neural network (CFNN) is used to calculate the category label and fuzzy category membership of the query image. Use a basic and balanced weighted distance metric. Feature information extraction (FIE) enhances remote sensing image processing and autonomous information retrieval of visual content based on time-frequency meaning, such as color, texture and shape attributes of images. Hierarchical nested structure and cyclic similarity measure produce faster queries when searching. The experiment's findings indicate that applying the proposed model can have favorable outcomes for assessment measures, including Ratio of Coverage, average means precision, recall, and efficiency retrieval that are attained more effectively than the existing CR model. In the areas of feature tracking, climate forecasting, background noise reduction, and simulating nonlinear functional behaviors, CFNN has a wide range of RS applications. The proposed method CFNN-FCMIE achieves a minimum range of 4-5% for all three feature vectors, sample mean and comparison precision-recall ratio, which gives better results than the existing classifier-based retrieval model. This work provides an important reference for medical imaging artificial intelligence system and big data analysis.

Translational bioinformatics and data science for biomarker discovery in mental health: an analytical review.

Translational bioinformatics and data science play a crucial role in biomarker discovery as it enables translational research and helps to bridge the gap between the bench research and the bedside clinical applications. Thanks to newer and faster molecular profiling technologies and reducing costs, there are many opportunities for researchers to explore the molecular and physiological mechanisms of diseases. Biomarker discovery enables researchers to better characterize patients, enables early detection and intervention/prevention and predicts treatment responses. Due to increasing prevalence and rising treatment costs, mental health (MH) disorders have become an important venue for biomarker discovery with the goal of improved patient diagnostics, treatment and care. Exploration of underlying biological mechanisms is the key to the understanding of pathogenesis and pathophysiology of MH disorders. In an effort to better understand the underlying mechanisms of MH disorders, we reviewed the major accomplishments in the MH space from a bioinformatics and data science perspective, summarized existing knowledge derived from molecular and cellular data and described challenges and areas of opportunities in this space.

Evaluating ChatGPT-4.0's data analytic proficiency in epidemiological studies: A comparative analysis with SAS, SPSS, and R.

Background: OpenAI's Chat Generative Pre-trained Transformer 4.0 (ChatGPT-4), an emerging artificial intelligence (AI)-based large language model (LLM), has been receiving increasing attention from the medical research community for its innovative 'Data Analyst' feature. We aimed to compare the capabilities of ChatGPT-4 against traditional biostatistical software (i.e. SAS, SPSS, R) in statistically analysing epidemiological research data. Methods: We used a data set from the China Health and Nutrition Survey, comprising 9317 participants and 29 variables (e.g. gender, age, educational level, marital status, income, occupation, weekly working hours, survival status). Two researchers independently evaluated the data analysis capabilities of GPT-4's 'Data Analyst' feature against SAS, SPSS, and R across three commonly used epidemiological analysis methods: Descriptive statistics, intergroup analysis, and correlation analysis. We used an internally developed evaluation scale to assess and compare the consistency of results, analytical efficiency of coding or operations, user-friendliness, and overall performance between ChatGPT-4, SAS, SPSS, and R. Results: In descriptive statistics, ChatGPT-4 showed high consistency of results, greater analytical efficiency of code or operations, and more intuitive user-friendliness compared to SAS, SPSS, and R. In intergroup comparisons and correlational analyses, despite minor discrepancies in statistical outcomes for certain analysis tasks with SAS, SPSS, and R, ChatGPT-4 maintained high analytical efficiency and exceptional user-friendliness. Thus, employing ChatGPT-4 can significantly lower the operational threshold for conducting epidemiological data analysis while maintaining consistency with traditional biostatistical software's outcome, requiring only specific, clear analysis instructions without any additional operations or code writing. Conclusions: We found ChatGPT-4 to be a powerful auxiliary tool for statistical analysis in epidemiological research. However, it showed limitations in result consistency and in applying more advanced statistical methods. Therefore, we advocate for the use of ChatGPT-4 in supporting researchers with intermediate experience in data analysis. With AI technologies like LLMs advancing rapidly, their integration with data analysis platforms promises to lower operational barriers, thereby enabling researchers to dedicate greater focus to the nuanced interpretation of analysis results. This development is likely to significantly advance epidemiological and medical research.

CSCA U-Net: A channel and space compound attention CNN for medical image segmentation.

Image segmentation is one of the vital steps in medical image analysis. A large number of methods based on convolutional neural networks have emerged, which can extract abstract features from multiple-modality medical images, learn valuable information that is difficult to recognize by humans, and obtain more reliable results than traditional image segmentation approaches. U-Net, due to its simple structure and excellent performance, is widely used in medical image segmentation. In this paper, to further improve the performance of U-Net, we propose a channel and space compound attention (CSCA) convolutional neural network, CSCA U-Net in abbreviation, which increases the network depth and employs a double squeeze-and-excitation (DSE) block in the bottleneck layer to enhance feature extraction and obtain more high-level semantic features. Moreover, the characteristics of the proposed method are three-fold: (1) channel and space compound attention (CSCA) block, (2) cross-layer feature fusion (CLFF), and (3) deep supervision (DS). Extensive experiments on several available medical image datasets, including Kvasir-SEG, CVC-ClinicDB, CVC-ColonDB, ETIS, CVC-T, 2018 Data Science Bowl (2018 DSB), ISIC 2018, and JSUAH-Cerebellum, show that CSCA U-Net achieves competitive results and significantly improves generalization performance. The codes and trained models are available at https://github.com/xiaolanshu/CSCA-U-Net.

Enantioselective Sulfonimidamide Acylation via a Cinchona Alkaloid-Catalyzed Desymmetrization: Scope, Data Science, and Mechanistic Investigation.

Methods to access chiral sulfur(VI) pharmacophores are of interest in medicinal and synthetic chemistry. We report the desymmetrization of unprotected sulfonimidamides via asymmetric acylation with a cinchona-phosphinate catalyst. The desired products are formed in excellent yield and enantioselectivity with no observed bis-acylation. A data-science-driven approach to substrate scope evaluation was coupled to high throughput experimentation (HTE) to facilitate statistical modeling in order to inform mechanistic studies. Reaction kinetics, catalyst structural studies, and density functional theory (DFT) transition state analysis elucidated the turnover-limiting step to be the collapse of the tetrahedral intermediate and provided key insights into the catalyst-substrate structure-activity relationships responsible for the origin of the enantioselectivity. This study offers a reliable method for accessing enantioenriched sulfonimidamides to propel their application as pharmacophores and serves as an example of the mechanistic insight that can be gleaned from integrating data science and traditional physical organic techniques.

The influence of ambient environmental factors on breakthrough Cancer pain: insights from remote health home monitoring and a proposed data analytic approach.

BACKGROUND: Breakthrough cancer pain (BTCP) is primarily managed at home and can stem from physical exertion and emotional distress triggers. Beyond these triggers, the impact of ambient environment on pain occurrence and intensity has not been investigated. This study explores the impact of environmental factors on the frequency and severity of breakthrough cancer pain (BTCP) in the home context from the perspective of patients with advanced cancer and their primary family caregiver. METHODS: A health monitoring system was deployed in the homes of patient and family caregiver dyads to collect self-reported pain events and contextual environmental data (light, temperature, humidity, barometric pressure, ambient noise.) Correlation analysis examined the relationship between environmental factors with: 1) individually reported pain episodes and 2) overall pain trends in a 24-hour time window. Machine learning models were developed to explore how environmental factors may predict BTCP episodes. RESULTS: Variability in correlation strength between environmental variables and pain reports among dyads was found. Light and noise show moderate association (r = 0.50-0.70) in 66% of total deployments. The strongest correlation for individual pain events involved barometric pressure (r = 0.90); for pain trends over 24-hours the strongest correlations involved humidity (r = 0.84) and barometric pressure (r = 0.83). Machine learning achieved 70% BTCP prediction accuracy. CONCLUSION: Our study provides insights into the role of ambient environmental factors in BTCP and offers novel opportunities to inform personalized pain management strategies, remotely support patients and their caregivers in self-symptom management. This research provides preliminary evidence of the impact of ambient environmental factors on BTCP in the home setting. We utilized real-world data and correlation analysis to provide an understanding of the relationship between environmental factors and cancer pain which may be helpful to others engaged in similar work.

Conceptual design of a generic data harmonization process for OMOP common data model.

BACKGROUND: To gain insight into the real-life care of patients in the healthcare system, data from hospital information systems and insurance systems are required. Consequently, linking clinical data with claims data is necessary. To ensure their syntactic and semantic interoperability, the Observational Medical Outcomes Partnership (OMOP) Common Data Model (CDM) from the Observational Health Data Sciences and Informatics (OHDSI) community was chosen. However, there is no detailed guide that would allow researchers to follow a generic process for data harmonization, i.e. the transformation of local source data into the standardized OMOP CDM format. Thus, the aim of this paper is to conceptualize a generic data harmonization process for OMOP CDM. METHODS: For this purpose, we conducted a literature review focusing on publications that address the harmonization of clinical or claims data in OMOP CDM. Subsequently, the process steps used and their chronological order as well as applied OHDSI tools were extracted for each included publication. The results were then compared to derive a generic sequence of the process steps. RESULTS: From 23 publications included, a generic data harmonization process for OMOP CDM was conceptualized, consisting of nine process steps: dataset specification, data profiling, vocabulary identification, coverage analysis of vocabularies, semantic mapping, structural mapping, extract-transform-load-process, qualitative and quantitative data quality analysis. Furthermore, we identified seven OHDSI tools which supported five of the process steps. CONCLUSIONS: The generic data harmonization process can be used as a step-by-step guide to assist other researchers in harmonizing source data in OMOP CDM.

Virtual BUILD Research Collaboratory: A biomedical data science training using innovative pedagogy to address structures of racism and inequitable stress for undergraduates of color.

OBJECTIVE: The unprecedented events of 2020 required a pivot in scientific training to better prepare the biomedical research workforce to address global pandemics, structural racism, and social inequities that devastate human health individually and erode it collectively. Furthermore, this pivot had to be accomplished in the virtual environment given the nation-wide lockdown. METHODS: These needs and context led to leveraging of the San Francisco Building Infrastructure Leading to Diversity (SF BUILD) theories of change to innovate a Virtual BUILD Research Collaboratory (VBRC). The purpose of VBRC was to train Black, Indigenous, and people of color (BIPOC) students to apply their unique perspectives to biomedical research. These training activities were evaluated using a pre-post survey design that included both validated and new psychosocial scales. A new scale was piloted to measure culturally relevant pedagogy. RESULTS: VBRC scholars increased science identity on two items: thinking of myself as a scientist (+1point, p = 0.006) and belonging to a community of scientists (+1point, p = 0.069). Overall, scholars perceived stress also decreased over VBRC (-2.35 points, p = 0.02). Post VBRC, scholars had high agency scores (µ = 11.02, Md = 12, range = 6-12, σ = 1.62) and cultural humility scores (µ = 22.11, Md = 23, range = 12-24, σ = 2.71). No notable race/ethnic differences were found in any measures. CONCLUSIONS: Taken together, our innovative approach to data science training for BIPOC in unprecedented times shows promise for better preparing the workforce critically needed to address the fundamental gaps in knowledge at the intersection of public health, structural racism, and biomedical sciences.

Towards global model generalizability: independent cross-site feature evaluation for patient-level risk prediction models using the OHDSI network.

BACKGROUND: Predictive models show promise in healthcare, but their successful deployment is challenging due to limited generalizability. Current external validation often focuses on model performance with restricted feature use from the original training data, lacking insights into their suitability at external sites. Our study introduces an innovative methodology for evaluating features during both the development phase and the validation, focusing on creating and validating predictive models for post-surgery patient outcomes with improved generalizability. METHODS: Electronic health records (EHRs) from 4 countries (United States, United Kingdom, Finland, and Korea) were mapped to the OMOP Common Data Model (CDM), 2008-2019. Machine learning (ML) models were developed to predict post-surgery prolonged opioid use (POU) risks using data collected 6 months before surgery. Both local and cross-site feature selection methods were applied in the development and external validation datasets. Models were developed using Observational Health Data Sciences and Informatics (OHDSI) tools and validated on separate patient cohorts. RESULTS: Model development included 41 929 patients, 14.6% with POU. The external validation included 31 932 (UK), 23 100 (US), 7295 (Korea), and 3934 (Finland) patients with POU of 44.2%, 22.0%, 15.8%, and 21.8%, respectively. The top-performing model, Lasso logistic regression, achieved an area under the receiver operating characteristic curve (AUROC) of 0.75 during local validation and 0.69 (SD = 0.02) (averaged) in external validation. Models trained with cross-site feature selection significantly outperformed those using only features from the development site through external validation (P < .05). CONCLUSIONS: Using EHRs across four countries mapped to the OMOP CDM, we developed generalizable predictive models for POU. Our approach demonstrates the significant impact of cross-site feature selection in improving model performance, underscoring the importance of incorporating diverse feature sets from various clinical settings to enhance the generalizability and utility of predictive healthcare models.

Multi-view representation learning for tabular data integration using inter-feature relationships.

OBJECTIVE: An applied problem facing all areas of data science is harmonizing data sources. Joining data from multiple origins with unmapped and only partially overlapping features is a prerequisite to developing and testing robust, generalizable algorithms, especially in healthcare. This integrating is usually resolved using meta-data such as feature names, which may be unavailable or ambiguous. Our goal is to design methods that create a mapping between structured tabular datasets derived from electronic health records independent of meta-data. METHODS: We evaluate methods in the challenging case of numeric features without reliable and distinctive univariate summaries, such as nearly Gaussian and binary features. We assume that a small set of features are a priori mapped between two datasets, which share unknown identical features and possibly many unrelated features. Inter-feature relationships are the main source of identification which we expect. We compare the performance of contrastive learning methods for feature representations, novel partial auto-encoders, mutual-information graph optimizers, and simple statistical baselines on simulated data, public datasets, the MIMIC-III medical-record changeover, and perioperative records from before and after a medical-record system change. Performance was evaluated using both mapping of identical features and reconstruction accuracy of examples in the format of the other dataset. RESULTS: Contrastive learning-based methods overall performed the best, often substantially beating the literature baseline in matching and reconstruction, especially in the more challenging real data experiments. Partial auto-encoder methods showed on-par matching with contrastive methods in all synthetic and some real datasets, along with good reconstruction. However, the statistical method we created performed reasonably well in many cases, with much less dependence on hyperparameter tuning. When validating feature match output in the EHR dataset we found that some mistakes were actually a surrogate or related feature as reviewed by two subject matter experts. CONCLUSION: In simulation studies and real-world examples, we find that inter-feature relationships are effective at identifying matching or closely related features across tabular datasets when meta-data is not available. Decoder architectures are also reasonably effective at imputing features without an exact match.

A Holistic Approach for Enhancing Museum Performance and Visitor Experience.

Managing modern museum content and visitor data analytics to achieve higher levels of visitor experience and overall museum performance is a complex and multidimensional issue involving several scientific aspects, such as exhibits' metadata management, visitor movement tracking and modelling, location/context-aware content provision, etc. In related prior research, most of the efforts have focused individually on some of these aspects and do not provide holistic approaches enhancing both museum performance and visitor experience. This paper proposes an integrated conceptualisation for improving these two aspects, involving four technological components. First, the adoption and parameterisation of four ontologies for the digital documentation and presentation of exhibits and their conservation methods, spatial management, and evaluation. Second, a tool for capturing visitor movement in near real-time, both anonymously (default) and eponymously (upon visitor consent). Third, a mobile application delivers personalised content to eponymous visitors based on static (e.g., demographic) and dynamic (e.g., visitor movement) data. Lastly, a platform assists museum administrators in managing visitor statistics and evaluating exhibits, collections, and routes based on visitors' behaviour and interactions. Preliminary results from a pilot implementation of this holistic approach in a multi-space high-traffic museum (MELTOPENLAB project) indicate that a cost-efficient, fully functional solution is feasible, and achieving an optimal trade-off between technical performance and cost efficiency is possible for museum administrators seeking unfragmented approaches that add value to their cultural heritage organisations.

Rudi Kundini, Pamoja Kundini (RKPK): study protocol for a hybrid type 1 randomized effectiveness-implementation trial using data science and economic incentive strategies to strengthen the continuity of care among people living with HIV in Tanzania.

BACKGROUND: Economic incentives can improve clinical outcomes among in-care people living with HIV (PLHIV), but evidence is limited for their effectiveness among out-of-care PLHIV or those at risk of disengagement. We propose a type 1 hybrid effectiveness-implementation study to advance global knowledge about the use of economic incentives to strengthen the continuity of HIV care and accelerate global goals for HIV epidemic control. METHODS: The Rudi Kundini, Pamoja Kundini study will evaluate two implementation models of an economic incentive strategy for supporting two groups of PLHIV in Tanzania. Phase 1 of the study consists of a two-arm, cluster randomized trial across 32 health facilities to assess the effectiveness of a home visit plus one-time economic incentive on the proportion of out-of-care PLHIV with viral load suppression (< 1000 copies/ml) 6 months after enrollment (n = 640). Phase 2 is an individual 1:1 randomized controlled trial designed to determine the effectiveness of a short-term counseling and economic incentive program offered to in-care PLHIV who are predicted through machine learning to be at risk of disengaging from care on the outcome of viral load suppression at 12 months (n = 692). The program includes up to three incentives conditional upon visit attendance coupled with adapted counselling sessions for this population of PLHIV. Consistent with a hybrid effectiveness-implementation study design, phase 3 is a mixed methods evaluation to explore barriers and facilitators to strategy implementation in phases 1 and 2. Results will be used to guide optimization and scale-up of the incentive strategies, if effective, to the larger population of Tanzanian PLHIV who struggle with continuity of HIV care. DISCUSSION: Innovative strategies that recognize the dynamic process of lifelong retention in HIV care are urgently needed. Strategies such as conditional economic incentives are a simple and effective method for improving many health outcomes, including those on the HIV continuum. If coupled with other supportive services such as home visits (phase 1) or with tailored counselling (phase 2), economic incentives have the potential to strengthen engagement among the subpopulation of PLHIV who struggle with retention in care and could help to close the gap towards reaching global "95-95-95" goals for ending the AIDS epidemic. TRIAL REGISTRATION: Phase 1: ClinicalTrials.gov, NCT05248100 , registered 2/21/2022. Phase 2: ClinicalTrials.gov, NCT05373095 , registered 5/13/2022.

Data analytics approach for short- and long-term mortality prediction following acute non-ST-elevation myocardial infarction (NSTEMI) and Unstable Angina (UA) in Asians.

BACKGROUND: Traditional risk assessment tools often lack accuracy when predicting the short- and long-term mortality following a non-ST-segment elevation myocardial infarction (NSTEMI) or Unstable Angina (UA) in specific population. OBJECTIVE: To employ machine learning (ML) and stacked ensemble learning (EL) methods in predicting short- and long-term mortality in Asian patients diagnosed with NSTEMI/UA and to identify the associated features, subsequently evaluating these findings against established risk scores. METHODS: We analyzed data from the National Cardiovascular Disease Database for Malaysia (2006-2019), representing a diverse NSTEMI/UA Asian cohort. Algorithm development utilized in-hospital records of 9,518 patients, 30-day data from 7,133 patients, and 1-year data from 7,031 patients. This study utilized 39 features, including demographic, cardiovascular risk, medication, and clinical features. In the development of the stacked EL model, four base learner algorithms were employed: eXtreme Gradient Boosting (XGB), Support Vector Machine (SVM), Naive Bayes (NB), and Random Forest (RF), with the Generalized Linear Model (GLM) serving as the meta learner. Significant features were chosen and ranked using ML feature importance with backward elimination. The predictive performance of the algorithms was assessed using the area under the curve (AUC) as a metric. Validation of the algorithms was conducted against the TIMI for NSTEMI/UA using a separate validation dataset, and the net reclassification index (NRI) was subsequently determined. RESULTS: Using both complete and reduced features, the algorithm performance achieved an AUC ranging from 0.73 to 0.89. The top-performing ML algorithm consistently surpassed the TIMI risk score for in-hospital, 30-day, and 1-year predictions (with AUC values of 0.88, 0.88, and 0.81, respectively, all p < 0.001), while the TIMI scores registered significantly lower at 0.55, 0.54, and 0.61. This suggests the TIMI score tends to underestimate patient mortality risk. The net reclassification index (NRI) of the best ML algorithm for NSTEMI/UA patients across these periods yielded an NRI between 40-60% (p < 0.001) relative to the TIMI NSTEMI/UA risk score. Key features identified for both short- and long-term mortality included age, Killip class, heart rate, and Low-Molecular-Weight Heparin (LMWH) administration. CONCLUSIONS: In a broad multi-ethnic population, ML approaches outperformed conventional TIMI scoring in classifying patients with NSTEMI and UA. ML allows for the precise identification of unique characteristics within individual Asian populations, improving the accuracy of mortality predictions. Continuous development, testing, and validation of these ML algorithms holds the promise of enhanced risk stratification, thereby revolutionizing future management strategies and patient outcomes.

Application of data science and bioinformatics in RNA therapeutics.

Nowadays, information technology (IT) has been holding a significant role in daily life worldwide. The trajectory of data science and bioinformatics promises pioneering personalized therapies, reshaping medical landscapes and patient care. For RNA therapy to reach more patients, a comprehensive understanding of the application of data science and bioinformatics to this therapy is essential. Thus, this chapter has summarized the application of data science and bioinformatics in RNA therapeutics. Data science applications in RNA therapy, such as data integration and analytics, machine learning, and drug development, have been discussed. In addition, aspects of bioinformatics such as RNA design and evaluation, drug delivery system simulation, and databases for personalized medicine have also been covered in this chapter. These insights have shed light on existing evidence and opened potential future directions. From there, scientists can elevate RNA-based therapeutics into an era of tailored treatments and revolutionary healthcare.

Dementia with Lewy Bodies: Genomics, Transcriptomics, and Its Future with Data Science.

Dementia with Lewy bodies (DLB) is a significant public health issue. It is the second most common neurodegenerative dementia and presents with severe neuropsychiatric symptoms. Genomic and transcriptomic analyses have provided some insight into disease pathology. Variants within SNCA, GBA, APOE, SNCB, and MAPT have been shown to be associated with DLB in repeated genomic studies. Transcriptomic analysis, conducted predominantly on candidate genes, has identified signatures of synuclein aggregation, protein degradation, amyloid deposition, neuroinflammation, mitochondrial dysfunction, and the upregulation of heat-shock proteins in DLB. Yet, the understanding of DLB molecular pathology is incomplete. This precipitates the current clinical position whereby there are no available disease-modifying treatments or blood-based diagnostic biomarkers. Data science methods have the potential to improve disease understanding, optimising therapeutic intervention and drug development, to reduce disease burden. Genomic prediction will facilitate the early identification of cases and the timely application of future disease-modifying treatments. Transcript-level analyses across the entire transcriptome and machine learning analysis of multi-omic data will uncover novel signatures that may provide clues to DLB pathology and improve drug development. This review will discuss the current genomic and transcriptomic understanding of DLB, highlight gaps in the literature, and describe data science methods that may advance the field.

Big data analytics for MerTK genomics reveals its double-edged sword functions in human diseases.

RATIONALE: MER proto-oncogene tyrosine kinase (MerTK) is a key receptor for the clearance of apoptotic cells (efferocytosis) and plays important roles in redox-related human diseases. We will explore MerTK biology in human cells, tissues, and diseases based on big data analytics. METHODS: The human RNA-seq and scRNA-seq data about 42,700 samples were from NCBI Gene Expression Omnibus and analyzed by QIAGEN Ingenuity Pathway Analysis (IPA) with about 170,000 crossover analysis. MerTK expression was quantified as Log2 (FPKM + 0.1). RESULTS: We found that, in human cells, MerTK is highly expressed in macrophages, monocytes, progenitor cells, alpha-beta T cells, plasma B cells, myeloid cells, and endothelial cells (ECs). In human tissues, MerTK has higher expression in plaque, blood vessels, heart, liver, sensory system, artificial tissue, bone, adrenal gland, central nervous system (CNS), and connective tissue. Compared to normal conditions, MerTK expression in related tissues is altered in many human diseases, including cardiovascular diseases, cancer, and brain disorders. Interestingly, MerTK expression also shows sex differences in many tissues, indicating that MerTK may have different impact on male and female. Finally, based on our proteomics from primary human aortic ECs, we validated the functions of MerTK in several human diseases, such as cancer, aging, kidney failure and heart failure. CONCLUSIONS: Our big data analytics suggest that MerTK may be a promising therapeutic target, but how it should be modulated depends on the disease types and sex differences. For example, MerTK inhibition emerges as a new strategy for cancer therapy due to it counteracts effect on anti-tumor immunity, while MerTK restoration represents a promising treatment for atherosclerosis and myocardial infarction as MerTK is cleaved in these disease conditions.