A toolbox of machine learning software to support microbiome analysis.

The human microbiome has become an area of intense research due to its potential impact on human health. However, the analysis and interpretation of this data have proven to be challenging due to its complexity and high dimensionality. Machine learning (ML) algorithms can process vast amounts of data to uncover informative patterns and relationships within the data, even with limited prior knowledge. Therefore, there has been a rapid growth in the development of software specifically designed for the analysis and interpretation of microbiome data using ML techniques. These software incorporate a wide range of ML algorithms for clustering, classification, regression, or feature selection, to identify microbial patterns and relationships within the data and generate predictive models. This rapid development with a constant need for new developments and integration of new features require efforts into compile, catalog and classify these tools to create infrastructures and services with easy, transparent, and trustable standards. Here we review the state-of-the-art for ML tools applied in human microbiome studies, performed as part of the COST Action ML4Microbiome activities. This scoping review focuses on ML based software and framework resources currently available for the analysis of microbiome data in humans. The aim is to support microbiologists and biomedical scientists to go deeper into specialized resources that integrate ML techniques and facilitate future benchmarking to create standards for the analysis of microbiome data. The software resources are organized based on the type of analysis they were developed for and the ML techniques they implement. A description of each software with examples of usage is provided including comments about pitfalls and lacks in the usage of software based on ML methods in relation to microbiome data that need to be considered by developers and users. This review represents an extensive compilation to date, offering valuable insights and guidance for researchers interested in leveraging ML approaches for microbiome analysis.

Advancing microbiome research with machine learning: key findings from the ML4Microbiome COST action.

The rapid development of machine learning (ML) techniques has opened up the data-dense field of microbiome research for novel therapeutic, diagnostic, and prognostic applications targeting a wide range of disorders, which could substantially improve healthcare practices in the era of precision medicine. However, several challenges must be addressed to exploit the benefits of ML in this field fully. In particular, there is a need to establish "gold standard" protocols for conducting ML analysis experiments and improve interactions between microbiome researchers and ML experts. The Machine Learning Techniques in Human Microbiome Studies (ML4Microbiome) COST Action CA18131 is a European network established in 2019 to promote collaboration between discovery-oriented microbiome researchers and data-driven ML experts to optimize and standardize ML approaches for microbiome analysis. This perspective paper presents the key achievements of ML4Microbiome, which include identifying predictive and discriminatory 'omics' features, improving repeatability and comparability, developing automation procedures, and defining priority areas for the novel development of ML methods targeting the microbiome. The insights gained from ML4Microbiome will help to maximize the potential of ML in microbiome research and pave the way for new and improved healthcare practices.

Occupational Exposure Assessment Tools in Europe: A Comprehensive Inventory Overview.

OBJECTIVES: The Network on the Coordination and Harmonisation of European Occupational Cohorts (OMEGA-NET) was set up to enable optimization of the use of industrial and general population cohorts across Europe to advance aetiological research. High-quality harmonized exposure assessment is crucial to derive comparable results and to enable pooled analyses. To facilitate a harmonized research strategy, a concerted effort is needed to catalogue available occupational exposure information. We here aim to provide a first comprehensive overview of exposure assessment tools that could be used for occupational epidemiological studies. METHODS: An online inventory was set up to collect meta-data on exposure assessment tools. Occupational health researchers were invited via newsletters, editorials, and individual e-mails to provide details of job-exposure matrices (JEMs), exposure databases, and occupational coding systems and their associated crosswalks to translate codes between different systems, with a focus on Europe. RESULTS: Meta-data on 36 general population JEMs, 11 exposure databases, and 29 occupational coding systems from more than 10 countries have been collected up to August 2021. A wide variety of exposures were covered in the JEMs on which data were entered, with dusts and fibres (in 14 JEMs) being the most common types. Fewer JEMs covered organization of work (5) and biological factors (4). Dusts and fibres were also the most common exposures included in the databases (7 out of 11), followed by solvents and pesticides (both in 6 databases). CONCLUSIONS: This inventory forms the basis for a searchable web-based database of meta-data on existing occupational exposure information, to support researchers in finding the available tools for assessing occupational exposures in their cohorts, and future efforts for harmonization of exposure assessment. This inventory remains open for further additions, to enlarge its coverage and include newly developed tools.

Statistical and Machine Learning Techniques in Human Microbiome Studies: Contemporary Challenges and Solutions.

The human microbiome has emerged as a central research topic in human biology and biomedicine. Current microbiome studies generate high-throughput omics data across different body sites, populations, and life stages. Many of the challenges in microbiome research are similar to other high-throughput studies, the quantitative analyses need to address the heterogeneity of data, specific statistical properties, and the remarkable variation in microbiome composition across individuals and body sites. This has led to a broad spectrum of statistical and machine learning challenges that range from study design, data processing, and standardization to analysis, modeling, cross-study comparison, prediction, data science ecosystems, and reproducible reporting. Nevertheless, although many statistics and machine learning approaches and tools have been developed, new techniques are needed to deal with emerging applications and the vast heterogeneity of microbiome data. We review and discuss emerging applications of statistical and machine learning techniques in human microbiome studies and introduce the COST Action CA18131 "ML4Microbiome" that brings together microbiome researchers and machine learning experts to address current challenges such as standardization of analysis pipelines for reproducibility of data analysis results, benchmarking, improvement, or development of existing and new tools and ontologies.

Probabilistic Approaches to Overcome Content Heterogeneity in Data Integration: A Study Case in Systematic Lupus Erythematosus.

Integrating data from different sources into homogeneous dataset increases the opportunities to study human health. However, disparate data collections are often heterogeneous, which complicates their integration. In this paper, we focus on the issue of content heterogeneity in data integration. Traditional approaches for resolving content heterogeneity map all source datasets to a common data model that includes only shared data items, and thus omit all items that vary between datasets. Based on an example of three datasets in Systemic Lupus Erythematosus, we describe and experimentally evaluate a probabilistic data integration approach which propagates the uncertainty resulting from content heterogeneity into statistical inference, avoiding the need to map to a common data model.

Integrating Smart Health in the US Health Care System: Infodemiology Study of Asthma Monitoring in the Google Era.

BACKGROUND: With the internet's penetration and use constantly expanding, this vast amount of information can be employed in order to better assess issues in the US health care system. Google Trends, a popular tool in big data analytics, has been widely used in the past to examine interest in various medical and health-related topics and has shown great potential in forecastings, predictions, and nowcastings. As empirical relationships between online queries and human behavior have been shown to exist, a new opportunity to explore the behavior toward asthma-a common respiratory disease-is present. OBJECTIVE: This study aimed at forecasting the online behavior toward asthma and examined the correlations between queries and reported cases in order to explore the possibility of nowcasting asthma prevalence in the United States using online search traffic data. METHODS: Applying Holt-Winters exponential smoothing to Google Trends time series from 2004 to 2015 for the term "asthma," forecasts for online queries at state and national levels are estimated from 2016 to 2020 and validated against available Google query data from January 2016 to June 2017. Correlations among yearly Google queries and between Google queries and reported asthma cases are examined. RESULTS: Our analysis shows that search queries exhibit seasonality within each year and the relationships between each 2 years' queries are statistically significant (P<.05). Estimated forecasting models for a 5-year period (2016 through 2020) for Google queries are robust and validated against available data from January 2016 to June 2017. Significant correlations were found between (1) online queries and National Health Interview Survey lifetime asthma (r=-.82, P=.001) and current asthma (r=-.77, P=.004) rates from 2004 to 2015 and (2) between online queries and Behavioral Risk Factor Surveillance System lifetime (r=-.78, P=.003) and current asthma (r=-.79, P=.002) rates from 2004 to 2014. The correlations are negative, but lag analysis to identify the period of response cannot be employed until short-interval data on asthma prevalence are made available. CONCLUSIONS: Online behavior toward asthma can be accurately predicted, and significant correlations between online queries and reported cases exist. This method of forecasting Google queries can be used by health care officials to nowcast asthma prevalence by city, state, or nationally, subject to future availability of daily, weekly, or monthly data on reported cases. This method could therefore be used for improved monitoring and assessment of the needs surrounding the current population of patients with asthma.