scholarly journals HeartBioPortal: an internet-of-omics for human cardiovascular disease data

2018 ◽  
Author(s):  
Bohdan Khomtchouk ◽  
Kasra A Vand ◽  
William C Koehler ◽  
Diem-Trang Tran ◽  
Kai Middlebrook ◽  
...  

Cardiovascular disease (CVD) is the leading cause of death worldwide, causing over 17M deaths per year, which outpaces global cancer mortality rates. Despite these sobering statistics, the state-of-the-art in computational infrastructure to study datasets associated with CVD has lagged far behind public resources widely available in the oncology field, where improved data science and visualization methods have led to the development of large-scale cancer genomics resources like MSKCC's cBioPortal or NCI's Genomic Data Commons (GDC) Portal. Developing a similar user-friendly computational platform could significantly lower the barriers between complex CVD data and researchers who want rapid, intuitive, and high-quality visual access to molecular profiles and clinical attributes from existing CVD projects. Here we present HeartBioPortal: a publicly available web application that provides intuitive visualization, analysis, and downloads of large-scale CVD data currently focused on gene expression, genetic association, and ancestry information. By democratizing access to anonymized CVD data, HeartBioPortal's aim is to integrate relevant omics and clinical information across the biological dataverse to support CVD clinicians and researchers.

2018 ◽  
Vol 7 (3) ◽  
pp. 1415
Author(s):  
Vinayak Hegde ◽  
Lavanya V Rao ◽  
Shivali B S

Examinations are an indispensable part of a student’s life. In the conventional mechanism, the question paper generation is time-consuming work for the faculty members of the educational institution. Every educational institute mandatorily expects exam setters to follow its own typesetting format. We have designed the automated question paper setting software to be user-friendly so that, paper setters can overcome from the typographic problem. Presently in most of the educational institutions question papers are set manually. It is time-consuming work and there may be chances of repetition of the same questions. So, in order to make the question paper generation more convenient to use, the web application is developed using Java Enterprise Edition (JEE) that can be accessed from LAN/Intranet.The application comes with the Admin Module and Teachers Module. The Admin grants access to the users by registering them. The faculty can access the system once they are registered. The faculty can enter questions in the database daily as per their free time. In this way, the question pool can be generated. The questions are approved by the chairperson and substandard questions are discarded. The question paper is then generated by selected course experts. The Fisher-Yates Shuffling algorithm used to choose questions randomly from the pool of questions from the database. Text Mining Algorithm aids in duplicity removal from the paper.  The generated question paper will be in Word Format. In our application, we assure better security, removal of duplicity, cost-effectiveness, and human intervention avoidance. It can be used by small-scale and large-scale institutions.  


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Arsenij Ustjanzew ◽  
Alexander Desuki ◽  
Christoph Ritzel ◽  
Alina Corinna Dolezilek ◽  
Daniel-Christoph Wagner ◽  
...  

Abstract Background Extensive sequencing of tumor tissues has greatly improved our understanding of cancer biology over the past years. The integration of genomic and clinical data is increasingly used to select personalized therapies in dedicated tumor boards (Molecular Tumor Boards) or to identify patients for basket studies. Genomic alterations and clinical information can be stored, integrated and visualized in the open-access resource cBioPortal for Cancer Genomics. cBioPortal can be run as a local instance enabling storage and analysis of patient data in single institutions, in the respect of data privacy. However, uploading clinical input data and genetic aberrations requires the elaboration of multiple data files and specific data formats, which makes it difficult to integrate this system into clinical practice. To solve this problem, we developed cbpManager. Results cbpManager is an R package providing a web-based interactive graphical user interface intended to facilitate the maintenance of mutations data and clinical data, including patient and sample information, as well as timeline data. cbpManager enables a large spectrum of researchers and physicians, regardless of their informatics skills to intuitively create data files ready for upload in cBioPortal for Cancer Genomics on a daily basis or in batch. Due to its modular structure based on R Shiny, further data formats such as copy number and fusion data can be covered in future versions. Further, we provide cbpManager as a containerized solution, enabling a straightforward large-scale deployment in clinical systems and secure access in combination with ShinyProxy. cbpManager is freely available via the Bioconductor project at https://bioconductor.org/packages/cbpManager/ under the AGPL-3 license. It is already used at six University Hospitals in Germany (Mainz, Gießen, Lübeck, Halle, Freiburg, and Marburg). Conclusion In summary, our package cbpManager is currently a unique software solution in the workflow with cBioPortal for Cancer Genomics, to assist the user in the interactive generation and management of study files suited for the later upload in cBioPortal.


2021 ◽  
Author(s):  
Wenliang Zhang ◽  
Yang Liu ◽  
Zhuochao Min ◽  
Guodong Liang ◽  
Jing Mo ◽  
...  

Abstract Many circRNA transcriptome data were deposited in public resources, but these data show great heterogeneity. Researchers without bioinformatics skills have difficulty in investigating these invaluable data or their own data. Here, we specifically designed circMine (http://hpcc.siat.ac.cn/circmine and http://www.biomedical-web.com/circmine/) that provides 1 821 448 entries formed by 136 871 circRNAs, 87 diseases and 120 circRNA transcriptome datasets of 1107 samples across 31 human body sites. circMine further provides 13 online analytical functions to comprehensively investigate these datasets to evaluate the clinical and biological significance of circRNA. To improve the data applicability, each dataset was standardized and annotated with relevant clinical information. All of the 13 analytic functions allow users to group samples based on their clinical data and assign different parameters for different analyses, and enable them to perform these analyses using their own circRNA transcriptomes. Moreover, three additional tools were developed in circMine to systematically discover the circRNA–miRNA interaction and circRNA translatability. For example, we systematically discovered five potential translatable circRNAs associated with prostate cancer progression using circMine. In summary, circMine provides user-friendly web interfaces to browse, search, analyze and download data freely, and submit new data for further integration, and it can be an important resource to discover significant circRNA in different diseases.


2020 ◽  
Author(s):  
Bohdan B. Khomtchouk ◽  
Kasra A. Vand ◽  
Christopher S. Nelson ◽  
Salvator Palmisano ◽  
Robert L. Grossman

AbstractCardiovascular disease (CVD) is the leading cause of death worldwide for both genders and across most racial and ethnic groups. However, different races and ethnicities exhibit different rates of cardiovascular disease and its related cardiorenal and metabolic co-morbidities, suggesting differences in genetic predisposition and risk of onset, as well as socioeconomic and lifestyle factors (diet, exercise, etc.) that act upon an individual’s unique underlying genetic background. Here we present HeartBioPortal2.0, a major update to HeartBioPortal, the world’s largest CVD genetics data precision medicine platform for harmonized CVD-relevant genetic variants, which now enables search and analysis of human genetic information related to heart disease across ethnically diverse populations and cardiovascular/renal/metabolic quantitative traits pertinent to CVD pathophysiology. HeartBioPortal2.0 is structured as a cloud-based computing platform and knowledge portal that consolidates a multitude of CVD-relevant next-generation sequencing data modalities into a single powerful query and browsing interface between data and user via a user-friendly web application publicly available to the scientific research community. Since its initial release, HeartBioPortal2.0 has added new cardiovascular/renal/metabolic disease relevant gene expression data as well as genetic association data from numerous large-scale genome-wide association study (GWAS) consortiums such as CARDIoGRAMplusC4D, TOPMed, FinnGen, AFGen, MESA, MEGASTROKE, UK Biobank, CHARGE, Biobank Japan, MyCode, among other studies. In addition, HeartBioPortal2.0 now includes support for quantitative traits and ethnically diverse populations, allowing users to investigate the shared genetic architecture of any gene or its variants across the continuous cardiometabolic spectrum from health (e.g., blood pressure traits) to disease (hypertension), facilitating the understanding of CVD trait genetics that inform health-to-disease transitions and endophenotypes. Custom visualizations in the new and improved user interface (UI), including performance enhancements and new security features such as user authentication collectively re-imagine HeartBioPortal’s user experience and provide a data commons that co-locates data, storage and computing infrastructure in the context of studying the genetic basis behind the leading cause of global mortality.Database URLhttps://www.heartbioportal.com/


2020 ◽  
Author(s):  
Ting Zhang ◽  
Jingjing Zhai ◽  
Xiaorong Zhang ◽  
Lei Ling ◽  
Menghan Li ◽  
...  

AbstractMicroRNAs (miRNAs) are important regulators of gene expression. The large-scale detection and profiling of miRNAs has accelerated with the development of high-throughput small RNA sequencing (sRNA-Seq) techniques and bioinformatics tools. However, generating high-quality comprehensive miRNA annotations remains challenging, due to the intrinsic complexity of sRNA-Seq data and inherent limitations of existing miRNA predictions. Here, we present iwa-miRNA, a Galaxy-based framework that can facilitate miRNA annotation in plant species by combining computational analysis and manual curation. iwa-miRNA is specifically designed to generate a comprehensive list of miRNA candidates, bridging the gap between already annotated miRNAs provided by public miRNA databases and new predictions from sRNA-Seq datasets. It can also assist users to select promising miRNA candidates in an interactive mode through the automated and manual steps, contributing to the accessibility and reproducibility of genome-wide miRNA annotation. iwa-miRNA is user-friendly and can be easily deployed as a web application for researchers without programming experience. With flexible, interactive, and easy-to-use features, iwa-miRNA is a valuable tool for annotation of miRNAs in plant species with reference genomes. We illustrated the application of iwa-miRNA for miRNA annotation of plant species with varying complexity. The sources codes and web server of iwa-miRNA is freely accessible at: http://iwa-miRNA.omicstudio.cloud/.


Author(s):  
Keun-Ho Jang ◽  
Won-Ju Park ◽  
Myeong-Bo Kim ◽  
Dae-Kwang Lee ◽  
Hong-Jae Chae ◽  
...  

2021 ◽  
Vol 3 (2) ◽  
pp. 444-453
Author(s):  
Arturo Cervantes Trejo ◽  
Sophie Domenge Treuille ◽  
Isaac Castañeda Alcántara

AbstractThe Institute for Security and Social Services for State Workers (ISSSTE) is a large public provider of health care services that serve around 13.2 million Mexican government workers and their families. To attain process efficiencies, cost reductions, and improvement of the quality of diagnostic and imaging services, ISSSTE was set out in 2019 to create a digital filmless medical image and report management system. A large-scale clinical information system (CIS), including radiology information system (RIS), picture archiving and communication system (PACS), and clinical data warehouse (CDW) components, was implemented at ISSSTE’s network of forty secondary- and tertiary-level public hospitals, applying global HL-7 and Digital Imaging and Communications in Medicine (DICOM) standards. In just 5 months, 40 hospitals had their endoscopy, radiology, and pathology services functionally interconnected within a national CIS and RIS/PACS on secure private local area networks (LANs) and a secure national wide area network (WAN). More than 2 million yearly studies and reports are now in digital form in a CDW, securely stored and always available. Benefits include increased productivity, reduced turnaround times, reduced need for duplicate exams, and reduced costs. Functional IT solutions allow ISSSTE hospitals to leave behind the use of radiographic film and printed medical reports with important cost reductions, as well as social and environmental impacts, leading to direct improvement in the quality of health care services rendered.


2021 ◽  
Vol 22 (S2) ◽  
Author(s):  
Daniele D’Agostino ◽  
Pietro Liò ◽  
Marco Aldinucci ◽  
Ivan Merelli

Abstract Background High-throughput sequencing Chromosome Conformation Capture (Hi-C) allows the study of DNA interactions and 3D chromosome folding at the genome-wide scale. Usually, these data are represented as matrices describing the binary contacts among the different chromosome regions. On the other hand, a graph-based representation can be advantageous to describe the complex topology achieved by the DNA in the nucleus of eukaryotic cells. Methods Here we discuss the use of a graph database for storing and analysing data achieved by performing Hi-C experiments. The main issue is the size of the produced data and, working with a graph-based representation, the consequent necessity of adequately managing a large number of edges (contacts) connecting nodes (genes), which represents the sources of information. For this, currently available graph visualisation tools and libraries fall short with Hi-C data. The use of graph databases, instead, supports both the analysis and the visualisation of the spatial pattern present in Hi-C data, in particular for comparing different experiments or for re-mapping omics data in a space-aware context efficiently. In particular, the possibility of describing graphs through statistical indicators and, even more, the capability of correlating them through statistical distributions allows highlighting similarities and differences among different Hi-C experiments, in different cell conditions or different cell types. Results These concepts have been implemented in NeoHiC, an open-source and user-friendly web application for the progressive visualisation and analysis of Hi-C networks based on the use of the Neo4j graph database (version 3.5). Conclusion With the accumulation of more experiments, the tool will provide invaluable support to compare neighbours of genes across experiments and conditions, helping in highlighting changes in functional domains and identifying new co-organised genomic compartments.


2021 ◽  
pp. 193229682098557
Author(s):  
Alysha M. De Livera ◽  
Jonathan E. Shaw ◽  
Neale Cohen ◽  
Anne Reutens ◽  
Agus Salim

Motivation: Continuous glucose monitoring (CGM) systems are an essential part of novel technology in diabetes management and care. CGM studies have become increasingly popular among researchers, healthcare professionals, and people with diabetes due to the large amount of useful information that can be collected using CGM systems. The analysis of the data from these studies for research purposes, however, remains a challenge due to the characteristics and large volume of the data. Results: Currently, there are no publicly available interactive software applications that can perform statistical analyses and visualization of data from CGM studies. With the rapidly increasing popularity of CGM studies, such an application is becoming necessary for anyone who works with these large CGM datasets, in particular for those with little background in programming or statistics. CGMStatsAnalyser is a publicly available, user-friendly, web-based application, which can be used to interactively visualize, summarize, and statistically analyze voluminous and complex CGM datasets together with the subject characteristics with ease.


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