Annual Review of Biomedical Data Science最新文献

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Best Practices on Big Data Analytics to Address Sex-Specific Biases in our Understanding of the Etiology, Diagnosis and Prognosis of Diseases 大数据分析的最佳实践,以解决我们对疾病病因、诊断和预后的理解中的性别特异性偏差
IF 6
Annual Review of Biomedical Data Science Pub Date : 2022-02-06 DOI: 10.1101/2022.01.31.22270183
S. Golder, K. O’Connor, Yunwen Wang, R. Stevens, G. Gonzalez-Hernandez
{"title":"Best Practices on Big Data Analytics to Address Sex-Specific Biases in our Understanding of the Etiology, Diagnosis and Prognosis of Diseases","authors":"S. Golder, K. O’Connor, Yunwen Wang, R. Stevens, G. Gonzalez-Hernandez","doi":"10.1101/2022.01.31.22270183","DOIUrl":"https://doi.org/10.1101/2022.01.31.22270183","url":null,"abstract":"A bias in health research to favor understanding of diseases as they present in men can have a grave impact on the health of women. This paper reports on a conceptual review of the literature that used machine learning or NLP techniques to interrogate big data for identifying sex-specific health disparities. We searched Ovid MEDLINE, Embase, and PsycINFO in October 2021 using synonyms and indexing terms for (1) \"women\" or \"men\" or \"sex,\" (2) \"big data\" or \"artificial intelligence\" or \"NLP\", and (3) \"disparities\" or \"differences.\" From 902 records, 22 studies met the inclusion criteria and were analyzed. Results demonstrate that the inclusion by sex is inconsistent and often unreported, although the inclusion of men in the included studies is disproportionately less than women. Even though AI and NLP techniques are widely applied in health research, few studies use them to take advatage of unstructured text to investigate sex-related differences or disparities. Researchers are increasingly aware of sex-based data bias, but the process to- wards correction is slow. We reflected on what would be the best practices on using big data analytics to address sex-specific biases in understanding the etiology, diagnosis, and prognosis of diseases.","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2022-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44284431","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}
引用次数: 1
Single-Cell Analysis for Whole-Organism Datasets. 全生物数据集的单细胞分析。
IF 6
Annual Review of Biomedical Data Science Pub Date : 2021-07-20 Epub Date: 2021-05-11 DOI: 10.1146/annurev-biodatasci-092820-031008
Angela Oliveira Pisco, Bruno Tojo, Aaron McGeever
{"title":"Single-Cell Analysis for Whole-Organism Datasets.","authors":"Angela Oliveira Pisco,&nbsp;Bruno Tojo,&nbsp;Aaron McGeever","doi":"10.1146/annurev-biodatasci-092820-031008","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-092820-031008","url":null,"abstract":"<p><p>Cell atlases are essential companions to the genome as they elucidate how genes are used in a cell type-specific manner or how the usage of genes changes over the lifetime of an organism. This review explores recent advances in whole-organism single-cell atlases, which enable understanding of cell heterogeneity and tissue and cell fate, both in health and disease. Here we provide an overview of recent efforts to build cell atlases across species and discuss the challenges that the field is currently facing. Moreover, we propose the concept of having a knowledgebase that can scale with the number of experiments and computational approaches and a new feedback loop for development and benchmarking of computational methods that includes contributions from the users. These two aspects are key for community efforts in single-cell biology that will help produce a comprehensive annotated map of cell types and states with unparalleled resolution.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2021-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39370511","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}
引用次数: 4
The 3D Genome Structure of Single Cells. 单细胞的三维基因组结构。
IF 6
Annual Review of Biomedical Data Science Pub Date : 2021-07-20 Epub Date: 2021-04-23 DOI: 10.1146/annurev-biodatasci-020121-084709
Tianming Zhou, Ruochi Zhang, Jian Ma
{"title":"The 3D Genome Structure of Single Cells.","authors":"Tianming Zhou,&nbsp;Ruochi Zhang,&nbsp;Jian Ma","doi":"10.1146/annurev-biodatasci-020121-084709","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-020121-084709","url":null,"abstract":"<p><p>The spatial organization of the genome in the cell nucleus is pivotal to cell function. However, how the 3D genome organization and its dynamics influence cellular phenotypes remains poorly understood. The very recent development of single-cell technologies for probing the 3D genome, especially single-cell Hi-C (scHi-C), has ushered in a new era of unveiling cell-to-cell variability of 3D genome features at an unprecedented resolution. Here, we review recent developments in computational approaches to the analysis of scHi-C, including data processing, dimensionality reduction, imputation for enhancing data quality, and the revealing of 3D genome features at single-cell resolution. While much progress has been made in computational method development to analyze single-cell 3D genomes, substantial future work is needed to improve data interpretation and multimodal data integration, which are critical to reveal fundamental connections between genome structure and function among heterogeneous cell populations in various biological contexts.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2021-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39371086","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}
引用次数: 29
Integration of Multimodal Data for Deciphering Brain Disorders. 多模态数据集成用于脑部疾病的破译。
IF 6
Annual Review of Biomedical Data Science Pub Date : 2021-07-20 Epub Date: 2021-04-23 DOI: 10.1146/annurev-biodatasci-092820-020354
Jingqi Chen, Guiying Dong, Liting Song, Xingzhong Zhao, Jixin Cao, Xiaohui Luo, Jianfeng Feng, Xing-Ming Zhao
{"title":"Integration of Multimodal Data for Deciphering Brain Disorders.","authors":"Jingqi Chen,&nbsp;Guiying Dong,&nbsp;Liting Song,&nbsp;Xingzhong Zhao,&nbsp;Jixin Cao,&nbsp;Xiaohui Luo,&nbsp;Jianfeng Feng,&nbsp;Xing-Ming Zhao","doi":"10.1146/annurev-biodatasci-092820-020354","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-092820-020354","url":null,"abstract":"<p><p>The accumulation of vast amounts of multimodal data for the human brain, in both normal and disease conditions, has provided unprecedented opportunities for understanding why and how brain disorders arise. Compared with traditional analyses of single datasets, the integration of multimodal datasets covering different types of data (i.e., genomics, transcriptomics, imaging, etc.) has shed light on the mechanisms underlying brain disorders in greater detail across both the microscopic and macroscopic levels. In this review, we first briefly introduce the popular large datasets for the brain. Then, we discuss in detail how integration of multimodal human brain datasets can reveal the genetic predispositions and the abnormal molecular pathways of brain disorders. Finally, we present an outlook on how future data integration efforts may advance the diagnosis and treatment of brain disorders.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2021-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39370514","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}
引用次数: 3
Modern Clinical Text Mining: A Guide and Review. 现代临床文本挖掘:指南与综述。
IF 6
Annual Review of Biomedical Data Science Pub Date : 2021-07-20 Epub Date: 2021-05-26 DOI: 10.1146/annurev-biodatasci-030421-030931
Bethany Percha
{"title":"Modern Clinical Text Mining: A Guide and Review.","authors":"Bethany Percha","doi":"10.1146/annurev-biodatasci-030421-030931","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-030421-030931","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2021-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39370515","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}
引用次数: 0
African Global Representation in Biomedical Sciences. 非洲在生物医学科学领域的全球代表性。
IF 6
Annual Review of Biomedical Data Science Pub Date : 2021-07-20 DOI: 10.1146/annurev-biodatasci-102920-112550
Nicola Mulder, Lyndon Zass, Yosr Hamdi, Houcemeddine Othman, Sumir Panji, Imane Allali, Yasmina Jaufeerally Fakim
{"title":"African Global Representation in Biomedical Sciences.","authors":"Nicola Mulder,&nbsp;Lyndon Zass,&nbsp;Yosr Hamdi,&nbsp;Houcemeddine Othman,&nbsp;Sumir Panji,&nbsp;Imane Allali,&nbsp;Yasmina Jaufeerally Fakim","doi":"10.1146/annurev-biodatasci-102920-112550","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-102920-112550","url":null,"abstract":"<p><p>African populations are diverse in their ethnicity, language, culture, and genetics. Although plagued by high disease burdens, until recently the continent has largely been excluded from biomedical studies. Along with limitations in research and clinical infrastructure, human capacity, and funding, this omission has resulted in an underrepresentation of African data and disadvantaged African scientists. This review interrogates the relative abundance of biomedical data from Africa, primarily in genomics and other omics. The visibility of African science through publications is also discussed. A challenge encountered in this review is the relative lack of annotation of data on their geographical or population origin, with African countries represented as a single group. In addition to the abovementioned limitations,the global representation of African data may also be attributed to the hesitation to deposit data in public repositories. Whatever the reason, the disparity should be addressed, as African data have enormous value for scientists in Africa and globally.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2021-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39373761","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}
引用次数: 4
Satellite Monitoring for Air Quality and Health. 空气质量和健康卫星监测。
IF 6
Annual Review of Biomedical Data Science Pub Date : 2021-07-20 Epub Date: 2021-06-01 DOI: 10.1146/annurev-biodatasci-110920-093120
Tracey Holloway, Daegan Miller, Susan Anenberg, Minghui Diao, Bryan Duncan, Arlene M Fiore, Daven K Henze, Jeremy Hess, Patrick L Kinney, Yang Liu, Jessica L Neu, Susan M O'Neill, M Talat Odman, R Bradley Pierce, Armistead G Russell, Daniel Tong, J Jason West, Mark A Zondlo
{"title":"Satellite Monitoring for Air Quality and Health.","authors":"Tracey Holloway,&nbsp;Daegan Miller,&nbsp;Susan Anenberg,&nbsp;Minghui Diao,&nbsp;Bryan Duncan,&nbsp;Arlene M Fiore,&nbsp;Daven K Henze,&nbsp;Jeremy Hess,&nbsp;Patrick L Kinney,&nbsp;Yang Liu,&nbsp;Jessica L Neu,&nbsp;Susan M O'Neill,&nbsp;M Talat Odman,&nbsp;R Bradley Pierce,&nbsp;Armistead G Russell,&nbsp;Daniel Tong,&nbsp;J Jason West,&nbsp;Mark A Zondlo","doi":"10.1146/annurev-biodatasci-110920-093120","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-110920-093120","url":null,"abstract":"<p><p>Data from satellite instruments provide estimates of gas and particle levels relevant to human health, even pollutants invisible to the human eye. However, the successful interpretation of satellite data requires an understanding of how satellites relate to other data sources, as well as factors affecting their application to health challenges. Drawing from the expertise and experience of the 2016-2020 NASA HAQAST (Health and Air Quality Applied Sciences Team), we present a review of satellite data for air quality and health applications. We include a discussion of satellite data for epidemiological studies and health impact assessments, as well as the use of satellite data to evaluate air quality trends, support air quality regulation, characterize smoke from wildfires, and quantify emission sources. The primary advantage of satellite data compared to in situ measurements, e.g., from air quality monitoring stations, is their spatial coverage. Satellite data can reveal where pollution levels are highest around the world, how levels have changed over daily to decadal periods, and where pollutants are transported from urban to global scales. To date, air quality and health applications have primarily utilized satellite observations and satellite-derived products relevant to near-surface particulate matter <2.5 μm in diameter (PM<sub>2.5</sub>) and nitrogen dioxide (NO<sub>2</sub>). Health and air quality communities have grown increasingly engaged in the use of satellite data, and this trend is expected to continue. From health researchers to air quality managers, and from global applications to community impacts, satellite data are transforming the way air pollution exposure is evaluated.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2021-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39373763","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}
引用次数: 18
Neoantigen Controversies. 新抗原争议。
IF 7
Annual Review of Biomedical Data Science Pub Date : 2021-07-20 Epub Date: 2021-05-11 DOI: 10.1146/annurev-biodatasci-092820-112713
Andrea Castro, Maurizio Zanetti, Hannah Carter
{"title":"Neoantigen Controversies.","authors":"Andrea Castro, Maurizio Zanetti, Hannah Carter","doi":"10.1146/annurev-biodatasci-092820-112713","DOIUrl":"10.1146/annurev-biodatasci-092820-112713","url":null,"abstract":"<p><p>Next-generation sequencing technologies have revolutionized our ability to catalog the landscape of somatic mutations in tumor genomes. These mutations can sometimes create so-called neoantigens, which allow the immune system to detect and eliminate tumor cells. However, efforts that stimulate the immune system to eliminate tumors based on their molecular differences have had less success than has been hoped for, and there are conflicting reports about the role of neoantigens in the success of this approach. Here we review some of the conflicting evidence in the literature and highlight key aspects of the tumor-immune interface that are emerging as major determinants of whether mutation-derived neoantigens will contribute to an immunotherapy response. Accounting for these factors is expected to improve success rates of future immunotherapy approaches.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":null,"pages":null},"PeriodicalIF":7.0,"publicationDate":"2021-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10146390/pdf/nihms-1877401.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9746249","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}
引用次数: 0
The Ethics of Consent in a Shifting Genomic Ecosystem. 在不断变化的基因组生态系统中的同意伦理。
IF 6
Annual Review of Biomedical Data Science Pub Date : 2021-07-20 DOI: 10.1146/annurev-biodatasci-030221-125715
Sandra Soo-Jin Lee
{"title":"The Ethics of Consent in a Shifting Genomic Ecosystem.","authors":"Sandra Soo-Jin Lee","doi":"10.1146/annurev-biodatasci-030221-125715","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-030221-125715","url":null,"abstract":"<p><p>The collection and use of human genetic data raise important ethical questions about how to balance individual autonomy and privacy with the potential for public good. The proliferation of local, national, and international efforts to collect genetic data and create linkages to support large-scale initiatives in precision medicine and the learning health system creates new demands for broad data sharing that involve managing competing interests and careful consideration of what constitutes appropriate ethical trade-offs. This review describes these emerging ethical issues with a focus on approaches to consent and issues related to justice in the shifting genomic research ecosystem.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2021-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8683157/pdf/nihms-1760354.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39371085","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}
引用次数: 6
Artificial Intelligence in Action: Addressing the COVID-19 Pandemic with Natural Language Processing. 人工智能在行动:用自然语言处理应对COVID-19大流行。
IF 6
Annual Review of Biomedical Data Science Pub Date : 2021-07-20 Epub Date: 2021-05-14 DOI: 10.1146/annurev-biodatasci-021821-061045
Qingyu Chen, Robert Leaman, Alexis Allot, Ling Luo, Chih-Hsuan Wei, Shankai Yan, Zhiyong Lu
{"title":"Artificial Intelligence in Action: Addressing the COVID-19 Pandemic with Natural Language Processing.","authors":"Qingyu Chen,&nbsp;Robert Leaman,&nbsp;Alexis Allot,&nbsp;Ling Luo,&nbsp;Chih-Hsuan Wei,&nbsp;Shankai Yan,&nbsp;Zhiyong Lu","doi":"10.1146/annurev-biodatasci-021821-061045","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-021821-061045","url":null,"abstract":"<p><p>The COVID-19 (coronavirus disease 2019) pandemic has had a significant impact on society, both because of the serious health effects of COVID-19 and because of public health measures implemented to slow its spread. Many of these difficulties are fundamentally information needs; attempts to address these needs have caused an information overload for both researchers and the public. Natural language processing (NLP)-the branch of artificial intelligence that interprets human language-can be applied to address many of the information needs made urgent by the COVID-19 pandemic. This review surveys approximately 150 NLP studies and more than 50 systems and datasets addressing the COVID-19 pandemic. We detail work on four core NLP tasks: information retrieval, named entity recognition, literature-based discovery, and question answering. We also describe work that directly addresses aspects of the pandemic through four additional tasks: topic modeling, sentiment and emotion analysis, caseload forecasting, and misinformation detection. We conclude by discussing observable trends and remaining challenges.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":null,"pages":null},"PeriodicalIF":6.0,"publicationDate":"2021-07-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39371087","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}
引用次数: 27
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