Reproducibility and Generalization of a Relation Extraction System for Gene-Disease Associations

Biomedical literature is a rich source of information on Gene-Disease Associations (GDAs) that could help physicians in assessing clinical decisions and improve patient care. GDAs are publicly available in databases containing relationships between gene/miRNA expression and related diseases such as specific types of cancer. Most of these resources, such as DisGeNET, miR2Disease and BioXpress, include also manually curated data from publications. Human annotations are expensive and cannot scale to the huge amount of data available in scientific literature (e.g., biomedical abstracts). Therefore, developing automated tools to identify GDAs is getting traction in the community. Such systems employ Relation Extraction (RE) techniques to extract information on gene/microRNA expression in diseases from text. Once an automated text-mining tool has been developed, it can be tested on human annotated data or it can be compared to state-of-the-art systems. In this work we reproduce DEXTER, a system to automatically extract Gene- Disease Associations (GDAs) from biomedical abstracts. The goal is to provide a benchmark for future works regarding Relation Extraction (RE), enabling researchers to test and compare their results. The implemented version of DEXTER is available in the following git repository: https://github.com/mntlra/DEXTER.Biomedical literature is a rich source of information on Gene-Disease Associations (GDAs) that could help physicians in assessing clinical decisions and improve patient care. GDAs are publicly available in databases containing relationships between gene/miRNA expression and related diseases such as specific types of cancer. Most of these resources, such as DisGeNET, miR2Disease and BioXpress, include also manually curated data from publications. Human annotations are expensive and cannot scale to the huge amount of data available in scientific literature (e.g., biomedical abstracts). Therefore, developing automated tools to identify GDAs is getting traction in the community. Such systems employ Relation Extraction (RE) techniques to extract information on gene/microRNA expression in diseases from text. Once an automated text-mining tool has been developed, it can be tested on human annotated data or it can be compared to state-of-the-art systems. In this work we reproduce DEXTER, a system to automatically extract Gene- Disease Associations (GDAs) from biomedical abstracts. The goal is to provide a benchmark for future works regarding Relation Extraction (RE), enabling researchers to test and compare their results. The implemented version of DEXTER is available in the following git repository: https://github.com/mntlra/DEXTER

COHORT IDENTIFICATION FROM FREE-TEXT CLINICAL NOTES USING SNOMED CT’S SEMANTIC RELATIONS

In this paper, a new cohort identification framework that exploits the semantic hierarchy of SNOMED CT is proposed to overcome the limitations of supervised machine learning-based approaches. Eligibility criteria descriptions and free-text clinical notes from the 2018 National NLP Clinical Challenge (n2c2) were processed to map to relevant SNOMED CT concepts and to measure semantic similarity between the eligibility criteria and patients. The eligibility of a patient was determined if the patient had a similarity score higher than a threshold cut-off value, which was established where the best F1 score could be achieved. The performance of the proposed system was evaluated for three eligibility criteria. The current framework’s macro-average F1 score across three eligibility criteria was higher than the previously reported results of the 2018 n2c2 (0.933 vs. 0.889). This study demonstrated that SNOMED CT alone can be leveraged for cohort identification tasks without referring to external textual sources for training.Doctor of Philosoph

Bioinformatics and Machine Learning for Cancer Biology

Cancer is a leading cause of death worldwide, claiming millions of lives each year. Cancer biology is an essential research field to understand how cancer develops, evolves, and responds to therapy. By taking advantage of a series of “omics” technologies (e.g., genomics, transcriptomics, and epigenomics), computational methods in bioinformatics and machine learning can help scientists and researchers to decipher the complexity of cancer heterogeneity, tumorigenesis, and anticancer drug discovery. Particularly, bioinformatics enables the systematic interrogation and analysis of cancer from various perspectives, including genetics, epigenetics, signaling networks, cellular behavior, clinical manifestation, and epidemiology. Moreover, thanks to the influx of next-generation sequencing (NGS) data in the postgenomic era and multiple landmark cancer-focused projects, such as The Cancer Genome Atlas (TCGA) and Clinical Proteomic Tumor Analysis Consortium (CPTAC), machine learning has a uniquely advantageous role in boosting data-driven cancer research and unraveling novel methods for the prognosis, prediction, and treatment of cancer

Recent Advances in Social Data and Artificial Intelligence 2019

The importance and usefulness of subjects and topics involving social data and artificial intelligence are becoming widely recognized. This book contains invited review, expository, and original research articles dealing with, and presenting state-of-the-art accounts pf, the recent advances in the subjects of social data and artificial intelligence, and potentially their links to Cyberspace

pHealth 2021. Proc. of the 18th Internat. Conf. on Wearable Micro and Nano Technologies for Personalised Health, 8-10 November 2021, Genoa, Italy

Smart mobile systems – microsystems, smart textiles, smart implants, sensor-controlled medical devices – together with related body, local and wide-area networks up to cloud services, have become important enablers for telemedicine and the next generation of healthcare services. The multilateral benefits of pHealth technologies offer enormous potential for all stakeholder communities, not only in terms of improvements in medical quality and industrial competitiveness, but also for the management of healthcare costs and, last but not least, the improvement of patient experience. This book presents the proceedings of pHealth 2021, the 18th in a series of conferences on wearable micro and nano technologies for personalized health with personal health management systems, hosted by the University of Genoa, Italy, and held as an online event from 8 – 10 November 2021. The conference focused on digital health ecosystems in the transformation of healthcare towards personalized, participative, preventive, predictive precision medicine (5P medicine). The book contains 46 peer-reviewed papers (1 keynote, 5 invited papers, 33 full papers, and 7 poster papers). Subjects covered include the deployment of mobile technologies, micro-nano-bio smart systems, bio-data management and analytics, autonomous and intelligent systems, the Health Internet of Things (HIoT), as well as potential risks for security and privacy, and the motivation and empowerment of patients in care processes. Providing an overview of current advances in personalized health and health management, the book will be of interest to all those working in the field of healthcare today

Pacific Symposium on Biocomputing 2023

The Pacific Symposium on Biocomputing (PSB) 2023 is an international, multidisciplinary conference for the presentation and discussion of current research in the theory and application of computational methods in problems of biological significance. Presentations are rigorously peer reviewed and are published in an archival proceedings volume. PSB 2023 will be held on January 3-7, 2023 in Kohala Coast, Hawaii. Tutorials and workshops will be offered prior to the start of the conference.PSB 2023 will bring together top researchers from the US, the Asian Pacific nations, and around the world to exchange research results and address open issues in all aspects of computational biology. It is a forum for the presentation of work in databases, algorithms, interfaces, visualization, modeling, and other computational methods, as applied to biological problems, with emphasis on applications in data-rich areas of molecular biology.The PSB has been designed to be responsive to the need for critical mass in sub-disciplines within biocomputing. For that reason, it is the only meeting whose sessions are defined dynamically each year in response to specific proposals. PSB sessions are organized by leaders of research in biocomputing's 'hot topics.' In this way, the meeting provides an early forum for serious examination of emerging methods and approaches in this rapidly changing field