{"title":"Modern Clinical Text Mining: A Guide and Review.","authors":"B. Percha","doi":"10.20944/preprints202010.0649.v1","DOIUrl":"https://doi.org/10.20944/preprints202010.0649.v1","url":null,"abstract":"Electronic health records (EHRs) are becoming a vital source of data for healthcare quality improvement, research, and operations. However, much of the most valuable information contained in EHRs remains buried in unstructured text. The field of clinical text mining has advanced rapidly in recent years, transitioning from rule-based approaches to machine learning and, more recently, deep learning. With new methods come new challenges, however, especially for those new to the field. This review provides an overview of clinical text mining for those who are encountering it for the first time (e.g., physician researchers, operational analytics teams, machine learning scientists from other domains). While not a comprehensive survey, this review describes the state of the art, with a particular focus on new tasks and methods developed over the past few years. It also identifies key barriers between these remarkable technical advances and the practical realities of implementation in health systems and in industry.","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":"4 1","pages":"165-187"},"PeriodicalIF":6.0,"publicationDate":"2020-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49439798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Infectious Disease Research in the Era of Big Data","authors":"P. Kasson","doi":"10.1146/annurev-biodatasci-121219-025722","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-121219-025722","url":null,"abstract":"Infectious disease research spans scales from the molecular to the global—from specific mechanisms of pathogen drug resistance, virulence, and replication to the movement of people, animals, and pathogens around the world. All of these research areas have been impacted by the recent growth of large-scale data sources and data analytics. Some of these advances rely on data or analytic methods that are common to most biomedical data science, while others leverage the unique nature of infectious disease, namely its communicability. This review outlines major research progress in the past few years and highlights some remaining opportunities, focusing on data or methodological approaches particular to infectious disease.","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":"1 1","pages":""},"PeriodicalIF":6.0,"publicationDate":"2020-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-biodatasci-121219-025722","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47867158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Computational Methods for Single-Particle Electron Cryomicroscopy.","authors":"Amit Singer, Fred J Sigworth","doi":"10.1146/annurev-biodatasci-021020-093826","DOIUrl":"10.1146/annurev-biodatasci-021020-093826","url":null,"abstract":"<p><p>Single-particle electron cryomicroscopy (cryo-EM) is an increasingly popular technique for elucidating the three-dimensional structure of proteins and other biologically significant complexes at near-atomic resolution. It is an imaging method that does not require crystallization and can capture molecules in their native states. In single-particle cryo-EM, the three-dimensional molecular structure needs to be determined from many noisy two-dimensional tomographic projections of individual molecules, whose orientations and positions are unknown. The high level of noise and the unknown pose parameters are two key elements that make reconstruction a challenging computational problem. Even more challenging is the inference of structural variability and flexible motions when the individual molecules being imaged are in different conformational states. This review discusses computational methods for structure determination by single-particle cryo-EM and their guiding principles from statistical inference, machine learning, and signal processing that also play a significant role in many other data science applications.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":"3 ","pages":"163-190"},"PeriodicalIF":6.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8412055/pdf/nihms-1580485.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10390679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Immunoinformatics: Predicting Peptide-MHC Binding.","authors":"Morten Nielsen, Massimo Andreatta, Bjoern Peters, Søren Buus","doi":"10.1146/annurev-biodatasci-021920-100259","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-021920-100259","url":null,"abstract":"<p><p>Immunoinformatics is a discipline that applies methods of computer science to study and model the immune system. A fundamental question addressed by immunoinformatics is how to understand the rules of antigen presentation by MHC molecules to T cells, a process that is central to adaptive immune responses to infections and cancer. In the modern era of personalized medicine, the ability to model and predict which antigens can be presented by MHC is key to manipulating the immune system and designing strategies for therapeutic intervention. Since the MHC is both polygenic and extremely polymorphic, each individual possesses a personalized set of MHC molecules with different peptide-binding specificities, and collectively they present a unique individualized peptide imprint of the ongoing protein metabolism. Mapping all MHC allotypes is an enormous undertaking that cannot be achieved without a strong bioinformatics component. Computational tools for the prediction of peptide-MHC binding have thus become essential in most pipelines for T cell epitope discovery and an inescapable component of vaccine and cancer research. Here, we describe the development of several such tools, from pioneering efforts to the current state-of-the-art methods, that have allowed for accurate predictions of peptide binding of all MHC molecules, even including those that have not yet been characterized experimentally.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":"3 ","pages":"191-215"},"PeriodicalIF":6.0,"publicationDate":"2020-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/annurev-biodatasci-021920-100259","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9809194","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Integrating Imaging and Omics: Computational Methods and Challenges","authors":"J. Hériché, S. Alexander, J. Ellenberg","doi":"10.1146/ANNUREV-BIODATASCI-080917-013328","DOIUrl":"https://doi.org/10.1146/ANNUREV-BIODATASCI-080917-013328","url":null,"abstract":"Fluorescence microscopy imaging has long been complementary to DNA sequencing- and mass spectrometry–based omics in biomedical research, but these approaches are now converging. On the one hand, omics methods are moving from in vitro methods that average across large cell populations to in situ molecular characterization tools with single-cell sensitivity. On the other hand, fluorescence microscopy imaging has moved from a morphological description of tissues and cells to quantitative molecular profiling with single-molecule resolution. Recent technological developments underpinned by computational methods have started to blur the lines between imaging and omics and have made their direct correlation and seamless integration an exciting possibility. As this trend continues rapidly, it will allow us to create comprehensive molecular profiles of living systems with spatial and temporal context and subcellular resolution. Key to achieving this ambitious goal will be novel computational methods and successfully dealing with the challenges of data integration and sharing as well as cloud-enabled big data analysis.","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2019-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/ANNUREV-BIODATASCI-080917-013328","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43681862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Biomolecular Data Resources: Bioinformatics Infrastructure for Biomedical Data Science","authors":"J. Vamathevan, R. Apweiler, E. Birney","doi":"10.1146/ANNUREV-BIODATASCI-072018-021321","DOIUrl":"https://doi.org/10.1146/ANNUREV-BIODATASCI-072018-021321","url":null,"abstract":"Technological advances have continuously driven the generation of bio-molecular data and the development of bioinformatics infrastructure, which enables data reuse for scientific discovery. Several types of data management resources have arisen, such as data deposition databases, added-value databases or knowledgebases, and biology-driven portals. In this review, we provide a unique overview of the gradual evolution of these resources and discuss the goals and features that must be considered in their development. With the increasing application of genomics in the health care context and with 60 to 500 million whole genomes estimated to be sequenced by 2022, biomedical research infrastructure is transforming, too. Systems for federated access, portable tools, provision of reference data, and interpretation tools will enable researchers to derive maximal benefits from these data. Collaboration, coordination, and sustainability of data resources are key to ensure that biomedical knowledge management can scale with technology shifts and growing data volumes.","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2019-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/ANNUREV-BIODATASCI-072018-021321","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45228710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Keenan, Megan L. Wojciechowicz, Zichen Wang, Kathleen M. Jagodnik, S. L. Jenkins, Alexander Lachmann, Avi Ma’ayan
{"title":"Connectivity Mapping: Methods and Applications","authors":"A. Keenan, Megan L. Wojciechowicz, Zichen Wang, Kathleen M. Jagodnik, S. L. Jenkins, Alexander Lachmann, Avi Ma’ayan","doi":"10.1146/ANNUREV-BIODATASCI-072018-021211","DOIUrl":"https://doi.org/10.1146/ANNUREV-BIODATASCI-072018-021211","url":null,"abstract":"Connectivity mapping resources consist of signatures representing changes in cellular state following systematic small-molecule, disease, gene, or other form of perturbations. Such resources enable the characterization of signatures from novel perturbations based on similarity; provide a global view of the space of many themed perturbations; and allow the ability to predict cellular, tissue, and organismal phenotypes for perturbagens. A signature search engine enables hypothesis generation by finding connections between query signatures and the database of signatures. This framework has been used to identify connections between small molecules and their targets, to discover cell-specific responses to perturbations and ways to reverse disease expression states with small molecules, and to predict small-molecule mimickers for existing drugs. This review provides a historical perspective and the current state of connectivity mapping resources with a focus on both methodology and community implementations.","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2019-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/ANNUREV-BIODATASCI-072018-021211","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49485099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
C. Deng, Timothy P. Daley, G. Brandine, Andrew D. Smith
{"title":"Molecular Heterogeneity in Large-Scale Biological Data: Techniques and Applications","authors":"C. Deng, Timothy P. Daley, G. Brandine, Andrew D. Smith","doi":"10.1146/ANNUREV-BIODATASCI-072018-021339","DOIUrl":"https://doi.org/10.1146/ANNUREV-BIODATASCI-072018-021339","url":null,"abstract":"High-throughput sequencing technologies have evolved at a stellar pace for almost a decade and have greatly advanced our understanding of genome biology. In these sampling-based technologies, there is an important detail that is often overlooked in the analysis of the data and the design of the experiments, specifically that the sampled observations often do not give a representative picture of the underlying population. This has long been recognized as a problem in statistical ecology and in the broader statistics literature. In this review, we discuss the connections between these fields, methodological advances that parallel both the needs and opportunities of large-scale data analysis, and specific applications in modern biology. In the process we describe unique aspects of applying these approaches to sequencing technologies, including sequencing error, population and individual heterogeneity, and the design of experiments.","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2019-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/ANNUREV-BIODATASCI-072018-021339","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44142841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Imaging, Visualization, and Computation in Developmental Biology","authors":"F. Cutrale, S. Fraser, Le A. Trinh","doi":"10.1146/ANNUREV-BIODATASCI-072018-021305","DOIUrl":"https://doi.org/10.1146/ANNUREV-BIODATASCI-072018-021305","url":null,"abstract":"Embryonic development is highly complex and dynamic, requiring the coordination of numerous molecular and cellular events at precise times and places. Advances in imaging technology have made it possible to follow developmental processes at cellular, tissue, and organ levels over time as they take place in the intact embryo. Parallel innovations of in vivo probes permit imaging to report on molecular, physiological, and anatomical events of embryogenesis, but the resulting multidimensional data sets pose significant challenges for extracting knowledge. In this review, we discuss recent and emerging advances in imaging technologies, in vivo labeling, and data processing that offer the greatest potential for jointly deciphering the intricate cellular dynamics and the underlying molecular mechanisms. Our discussion of the emerging area of “image-omics” highlights both the challenges of data analysis and the promise of more fully embracing computation and data science for rapidly advancing our understanding of biology.","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2019-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/ANNUREV-BIODATASCI-072018-021305","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47191858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Discovering Pathway and Cell Type Signatures in Transcriptomic Compendia with Machine Learning","authors":"G. Way, C. Greene","doi":"10.1146/ANNUREV-BIODATASCI-072018-021348","DOIUrl":"https://doi.org/10.1146/ANNUREV-BIODATASCI-072018-021348","url":null,"abstract":"Pathway and cell type signatures are patterns present in transcriptome data that are associated with biological processes or phenotypic consequences. These signatures result from specific cell type and pathway expression but can require large transcriptomic compendia to detect. Machine learning techniques can be powerful tools for signature discovery through their ability to provide accurate and interpretable results. In this review, we discuss various machine learning applications to extract pathway and cell type signatures from transcriptomic compendia. We focus on the biological motivations and interpretation for both supervised and unsupervised learning approaches in this setting. We consider recent advances, including deep learning, and their applications to expanding bulk and single-cell RNA data. As data and computational resources increase, there will be more opportunities for machine learning to aid in revealing biological signatures.","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":6.0,"publicationDate":"2019-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1146/ANNUREV-BIODATASCI-072018-021348","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46673466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}