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Summary In this article, we present IntelliGenes , a novel machine learning (ML) pipeline for the multi-genomics exploration to discover biomarkers significant in disease prediction with high accuracy. IntelliGenes is based on a novel approach, which consists of nexus of conventional statistical techniques and cutting-edge ML algorithms using multi-genomic, clinical, and demographic data. IntelliGenes introduces a new metric, i.e. Intelligent Gene (I-Gene) score to measure the importance of individual biomarkers for prediction of complex traits. I-Gene scores can be utilized to generate I-Gene profiles of individuals to comprehend the intricacies of ML used in disease prediction. IntelliGenes is user-friendly, portable, and a cross-platform application, compatible with Microsoft Windows, macOS, and UNIX operating systems. IntelliGenes not only holds the potential for personalized early detection of common and rare diseases in individuals, but also opens avenues for broader research using novel ML methodologies, ultimately leading to personalized interventions and novel treatment targets. Availability and implementation The source code of IntelliGenes is available on GitHub (https://github.com/drzeeshanahmed/intelligenes) and Code Ocean (https://codeocean.com/capsule/8638596/tree/v1). [ABSTRACT FROM AUTHOR]

Precision medicine uses genetic, environmental and lifestyle factors to more accurately diagnose and treat disease in specific groups of patients, and it is considered one of the most promising medical efforts of our time. The use of genetics is arguably the most data-rich and complex components of precision medicine. The grand challenge today is the successful assimilation of genetics into precision medicine that translates across different ancestries, diverse diseases and other distinct populations, which will require clever use of artificial intelligence (AI) and machine learning (ML) methods. Our goal here was to review and compare scientific objectives, methodologies, datasets, data sources, ethics and gaps of AI/ML approaches used in genomics and precision medicine. We selected high-quality literature published within the last 5 years that were indexed and available through PubMed Central. Our scope was narrowed to articles that reported application of AI/ML algorithms for statistical and predictive analyses using whole genome and/or whole exome sequencing for gene variants, and RNA-seq and microarrays for gene expression. We did not limit our search to specific diseases or data sources. Based on the scope of our review and comparative analysis criteria, we identified 32 different AI/ML approaches applied in variable genomics studies and report widely adapted AI/ML algorithms for predictive diagnostics across several diseases. [ABSTRACT FROM AUTHOR]

It's been over 100 years since the word 'gene' is around and progressively evolving in several scientific directions. Time-to-time technological advancements have heavily revolutionized the field of genomics, especially when it's about, e.g. triple code development, gene number proposition, genetic mapping, data banks, gene–disease maps, catalogs of human genes and genetic disorders, CRISPR/Cas9, big data and next generation sequencing, etc. In this manuscript, we present the progress of genomics from pea plant genetics to the human genome project and highlight the molecular, technical and computational developments. Studying genome and epigenome led to the fundamentals of development and progression of human diseases, which includes chromosomal, monogenic, multifactorial and mitochondrial diseases. World Health Organization has classified, standardized and maintained all human diseases, when many academic and commercial online systems are sharing information about genes and linking to associated diseases. To efficiently fathom the wealth of this biological data, there is a crucial need to generate appropriate gene annotation repositories and resources. Our focus has been how many gene–disease databases are available worldwide and which sources are authentic, timely updated and recommended for research and clinical purposes. In this manuscript, we have discussed and compared 43 such databases and bioinformatics applications, which enable users to connect, explore and, if possible, download gene–disease data. [ABSTRACT FROM AUTHOR]

Precision medicine is one of the recent and powerful developments in medical care, which has the potential to improve the traditional symptom-driven practice of medicine, allowing earlier interventions using advanced diagnostics and tailoring better and economically personalized treatments. Identifying the best pathway to personalized and population medicine involves the ability to analyze comprehensive patient information together with broader aspects to monitor and distinguish between sick and relatively healthy people, which will lead to a better understanding of biological indicators that can signal shifts in health. While the complexities of disease at the individual level have made it difficult to utilize healthcare information in clinical decision-making, some of the existing constraints have been greatly minimized by technological advancements. To implement effective precision medicine with enhanced ability to positively impact patient outcomes and provide real-time decision support, it is important to harness the power of electronic health records by integrating disparate data sources and discovering patient-specific patterns of disease progression. Useful analytic tools, technologies, databases, and approaches are required to augment networking and interoperability of clinical, laboratory and public health systems, as well as addressing ethical and social issues related to the privacy and protection of healthcare data with effective balance. Developing multifunctional machine learning platforms for clinical data extraction, aggregation, management and analysis can support clinicians by efficiently stratifying subjects to understand specific scenarios and optimize decision-making. Implementation of artificial intelligence in healthcare is a compelling vision that has the potential in leading to the significant improvements for achieving the goals of providing real-time, better personalized and population medicine at lower costs. In this study, we focused on analyzing and discussing various published artificial intelligence and machine learning solutions, approaches and perspectives, aiming to advance academic solutions in paving the way for a new data-centric era of discovery in healthcare. [ABSTRACT FROM AUTHOR]

Biomedical images are helpful sources for the scientists and practitioners in drawing significant hypotheses, exemplifying approaches and describing experimental results in published biomedical literature. In last decades, there has been an enormous increase in the amount of heterogeneous biomedical image production and publication, which results in a need for bioimaging platforms for feature extraction and analysis of text and content in biomedical images to take advantage in implementing effective information retrieval systems. In this review, we summarize technologies related to data mining of figures. We describe and compare the potential of different approaches in terms of their developmental aspects, used methodologies, produced results, achieved accuracies and limitations. Our comparative conclusions include current challenges for bioimaging software with selective image mining, embedded text extraction and processing of complex natural language queries. [ABSTRACT FROM AUTHOR]

A major challenge for mass spectrometric-based lipidomics, aiming at describing all lipid species in a biological sample, lies in the computational and bioinformatic processing of the large amount of data that arises after data acquisition. Lipid-Pro is a software tool that supports the identification of lipids by interpreting large datasets generated by liquid chromatography— tandem mass spectrometry (LC–MS/MS) using the advanced data-independent acquisition mode MSE. In the MSE mode, the instrument fragments all molecular ions generated from a sample and records time-resolved molecular ion data as well as fragment ion data for every detectable molecular ion. Lipid-Pro matches the retention time-aligned mass-to-charge ratio data of molecular- and fragment ions with a lipid database and generates a report on all identified lipid species. For generation of the lipid database, Lipid-Pro provides a module for construction of lipid species and their fragments using a flexible building block approach. Hence, Lipid-Pro is an easy to use analysis tool to interpret complex MSE lipidomics data and also offers a module to generate a user-specific lipid database. [ABSTRACT FROM AUTHOR]

The composition of stable-isotope labelled isotopologues/isotopomers in metabolic products can be measured by mass spectrometry and supports the analysis of pathways and fluxes. As a prerequisite, the original mass spectra have to be processed, managed and stored to rapidly calculate, analyse and compare isotopomer enrichments to study, for instance, bacterial metabolism in infection. For such applications, we provide here the database application ‘Isotopo’. This software package includes (i) a database to store and process isotopomer data, (ii) a parser to upload and translate different data formats for such data and (iii) an improved application to process and convert signal intensities from mass spectra of 13C-labelled metabolites such as tertbutyldimethylsilyl-derivatives of amino acids. Relative mass intensities and isotopomer distributions are calculated applying a partial least square method with iterative refinement for high precision data. The data output includes formats such as graphs for overall enrichments in amino acids. The package is user-friendly for easy and robust data management of multiple experiments. [ABSTRACT FROM AUTHOR]