scholarly journals Web-based Gene Pathogenicity Analysis (WGPA): a web platform to interpret gene pathogenicity from personal genome data

2015 ◽  
Vol 32 (4) ◽  
pp. 635-637 ◽  
Author(s):  
Juan J. Diaz-Montana ◽  
Owen J.L. Rackham ◽  
Norberto Diaz-Diaz ◽  
Enrico Petretto
Author(s):  
Liam R. E. Quin

The W3C is involving publishers and people and organizations who provide tools for publishers in an effort to change the Web so that it's suitable for publishing. The Open Web Platform is changing the ways people do things. Proprietary desktop tools are being replaced by Web-based applications. At the same time ebooks are forcing publishers to come to terms with producing multiple output formats from their assets, so that "XML Early" and "XML First" are hot buzzwords in the industry. The EPUB3 format, defined by IPDF, uses XHTML and CSS, W3C Web technologies. The Open Web Platform doesn't meet the needs of publishers today. So W3C is working more closely with IPDF, with publishers and designers, and others, to change the Web so that it's suitable for publishing. Technical work on CSS has already begun and W3C is looking at internationalization, HTML, metadata, and workflow.


2018 ◽  
Author(s):  
Velimir Gayevskiy ◽  
Tony Roscioli ◽  
Marcel E Dinger ◽  
Mark J Cowley

AbstractCapability for genome sequencing and variant calling has increased dramatically, enabling large scale genomic interrogation of human disease. However, discovery is hindered by the current limitations in genomic interpretation, which remains a complicated and disjointed process. We introduce Seave, a web platform that enables variants to be easily filtered and annotated with in silico pathogenicity prediction scores and annotations from popular disease databases. Seave stores genomic variation of all types and sizes, and allows filtering for specific inheritance patterns, quality values, allele frequencies and gene lists. Seave is open source and deployable locally, or on a cloud computing provider, and works readily with gene panel, exome and whole genome data, scaling from single labs to multi-institution scale.


Author(s):  
Rosa Maria Gonzalez-Amaro ◽  
Miguel Angel Hidalgo-Reyes ◽  
Virginia Lagunes-Barradas

In this chapter, the research theme is focused on the relationship between small farmers and information and communication technologies (ICT). Although there are other previous works that have already analyzed this same relationship, the authors believe that access to information remains a major challenge for farmers. With the application of workshops on agricultural practices of maize, in communities of Oaxaca and Veracruz, they learned about the practices of farmers around the production cycle and applied a survey to find out their opinion regarding the use of ICT. In addition, they used a specialized database to complement the workshops objectives. Next, in collaboration between researchers in the areas of biology and computing, they developed a web platform for access and use of information related to the variables of interest to farmers. Among the main results, they highlight that the community prefers to use cell phones to access such information and that the older generations are looking to transmit experiences and knowledge to the young with the aim of conserving ancestral knowledge.


2019 ◽  
Vol 36 (6) ◽  
pp. 526-532 ◽  
Author(s):  
Joshua A. Rolnick ◽  
Judy A. Shea ◽  
Joanna L. Hart ◽  
Scott D. Halpern

Background: Little is understood about the different ways patients complete advance directives (ADs), which is most commonly through lawyers and increasingly using websites. Objective: To understand patients’ perspectives on different approaches to facilitating AD completion, the value of legal regulation of ADs, and the use of a web-based platform to create an AD. Design: Semi-structured interviews with patients. Setting/Participants: We purposively sampled 25 patients at least 70 years of age or with a chronic disease from 2 internal medicine clinics. Measurements: Interviews focused on experiences and perspectives creating ADs, including facilitation by lawyers, health-care professionals, and websites. Feedback on a website prototype was also obtained. Responses were analyzed with modified grounded theory until thematic saturation was achieved. Results: Although a majority of participants with ADs had used lawyers, participants were ambivalent about the benefits of lawyer facilitation. Most valued both the medical perspective of a health-care professional and a lawyer’s attention to legal requirements for AD validity. Participants had positive impressions of the web platform, but some were concerned about privacy with online storage. Trust emerged as an overarching theme, and participants valued legal regulation of ADs to ensure document authenticity and delivery of preference-concordant care. Conclusion: Efforts to improve documentation of care planning need to address the disparate methods by which participants complete ADs. Creating options that combine the perceived benefits of a legal approach with greater health professional involvement could appeal to participants. Privacy concerns may limit web use by some patients.


2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Stefano Di Bartolomeo ◽  
Paolo Gava ◽  
Anatolij Truhlář ◽  
Mårten Sandberg ◽  
The Euphorea Group

Objectives.To gather information on helicopter emergency medical services (HEMSs) activities across Europe.Methods.Cross-sectional data-collection on daily (15 November 2013) activities of a sample of European HEMSs. A web-based questionnaire with both open and closed questions was used, developed by experts of the European Prehospital Research Alliance (EUPHOREA).Results.We invited 143 bases from 11 countries; 85 (60%) reported base characteristics only and 73 (51%) sample-day data too. The variety of base characteristics was enormous; that is, the target population ranged from 94.000 to 4.500.000. Of 158 requested primary missions, 62 (0.82 per base) resulted in landing. Cardiac aetiology (36%) and trauma (36%) prevailed, mostly of life-threatening severity (43%, 0.64 per mission). Had HEMS been not dispatched, patients would have been attended by another physician in 67% of cases, by paramedics in 24%, and by nurses in 9%. On-board physicians estimated to have caused a major decrease of death risk in 47% of missions, possible decrease in 22%, minor benefit in 17%, no benefit in 11%, and damage in 3%. Earlier treatment and faster transport to hospital were the main reasons for benefit. The most frequent therapeutic procedure was drug administration (78% of missions); endotracheal intubation occurred in 25% of missions and was an option hardly offered by ground crews.Conclusions.The study proved feasible, establishing an embryonic network of European HEMS. The participation rate was low and limits the generalizability of the results. Fortunately, because of its cross-sectional characteristics and the handy availability of the web platform, the study is easily repeatable with an enhanced network.


2019 ◽  
Vol 9 (1) ◽  
pp. 10
Author(s):  
Milica Krunic ◽  
Peter Venhuizen ◽  
Leonhard Müllauer ◽  
Bettina Kaserer ◽  
Arndt von Haeseler

Fast and affordable benchtop sequencers are becoming more important in improving personalized medical treatment. Still, distinguishing genetic variants between healthy and diseased individuals from sequencing errors remains a challenge. Here we present VARIFI, a pipeline for finding reliable genetic variants (single nucleotide polymorphisms (SNPs) and insertions and deletions (indels)). We optimized parameters in VARIFI by analyzing more than 170 amplicon-sequenced cancer samples produced on the Personal Genome Machine (PGM). In contrast to existing pipelines, VARIFI combines different analysis methods and, based on their concordance, assigns a confidence score to each identified variant. Furthermore, VARIFI applies variant filters for biases associated with the sequencing technologies (e.g., incorrectly identified homopolymer-associated indels with Ion Torrent). VARIFI automatically extracts variant information from publicly available databases and incorporates methods for variant effect prediction. VARIFI requires little computational experience and no in-house compute power since the analyses are conducted on our server. VARIFI is a web-based tool available at varifi.cibiv.univie.ac.at.


2021 ◽  
Vol 11 (6) ◽  
pp. 2506
Author(s):  
Sergio López Bernal ◽  
Javier Martínez Valverde ◽  
Alberto Huertas Celdrán ◽  
Gregorio Martínez Pérez

Web platforms are gaining relevance in eHealth, where they ease the interaction between patients and clinician. However, some clinical fields, such as the cardiovascular one, still need more effort because cardiovascular diseases are the principal cause of death and medical resources expenditure worldwide. The lack of daily control is the main reason hypertension is a current health problem, and medical web services could improve this situation. To face this challenge, this work proposes a novel intelligent web-based ecosystem, called SENIOR, capable of predicting adverse blood pressure events. The innovation of the SENIOR ecosystem relies on a wearable device measuring patient’s biomarkers such as blood pressure, a mobile application acquiring patient’s information, and a web platform consulting environmental services, processing data, and predicting blood pressure. The second contribution of this work is to consider novel environmental features based on the users’ location, such as climate and pollution data, to increase the knowledge about known variables affecting hypertension. Finally, our last contribution is a proof of concept with several machine learning algorithms predicting blood pressure values both in real-time and future temporal windows within one day has demonstrated the suitability of SENIOR.


Nova Scientia ◽  
2020 ◽  
Vol 12 (25) ◽  
Author(s):  
Miguel Gastón Cedillo-Campos

Even though technological development is rapidly increasing in supply chains, logistics performance in any kind of organizations remains strongly related to a set of human-based skills and competencies. The aim of this article is to expose the design process and implementation of a web platform to develop collective intelligence in logistics for Latin American SMEs. Based on the case study method, it exposes the structure and processes used when programming the web-based platform to develop collective intelligence in logistics. This article presents conclusions that expand the panorama to develop this type de tools in Latin America. Indeed, since the region lacks a satisfactory critical mass of “world class” logistic skills, the IT platforms can play an interesting role for developing a “spot market” of collective intelligence in logistics. This is a first step to improve the value of logistics knowledge in the region, but also to stimulate the movement of logistics knowledge flux beyond the companies’ bounds. Similarly, potential future research lines are presented.


2017 ◽  
Author(s):  
Mariam Aguas ◽  
Javier del Hoyo ◽  
Raquel Faubel ◽  
Diana Mu�oz ◽  
David Dom�nguez ◽  
...  

BACKGROUND Telemedicine has been successfully used to provide inflammatory bowel disease (IBD) patients with health care services remotely via the implementation of information and communications technology, which uses safe and feasible apps that have been well accepted by patients in remission. However, the design of telemedicine apps in this setting involves difficulties that hinder the adherence of patients to the follow-up plans and the efficacy of these systems to improve disease activity and quality of life. OBJECTIVE This study aimed to evaluate the development of a Web platform, Telemonitoring of Crohn Disease and Ulcerative Colitis (TECCU), for remote monitoring of patients with complex IBD and the design of a clinical trial involving IBD patients who received standard care (G_Control), nurse-assisted telephone care (G_NT), or care based on distance monitoring (G_TECCU). METHODS We describe the development of a remote monitoring system and the difficulties encountered in designing the platform. A 3-arm randomized controlled trial was designed to evaluate the effectiveness of this Web platform in disease management compared with G_NT and G_Control. RESULTS According to the schedules established for the medical treatment initiated (corticosteroids, immunosuppressants, or biological agents), a total of 63 patients (21 patients from each group) answered periodic questionnaires regarding disease activity, quality of life, therapeutic adherence, adverse effects, satisfaction, work productivity, and social activities. Blood and stool analyses (fecal calprotectin) were performed periodically. On the basis of the results of these tests in G_TECCU, alerts were generated in a Web platform with adapted action plans, including changes in medication and frequency of follow-up. The main issues found were the development of an easy-to-use Web platform, the selection of validated clinical scores and objective biomarkers for remote monitoring, and the design of a clinical trial to compare the 3 main follow-up methods evaluated to date in IBD. CONCLUSIONS The development of a Web-based remote management program for safe and adequate control of IBD proved challenging. The results of this clinical trial will advance knowledge regarding the effectiveness of TECCU Web platform for improvement of disease activity, quality of life, and use of health care resources in complex IBD patients. CLINICALTRIAL ClinicalTrials.gov NCT02943538; https://clinicaltrials.gov/ct2/show/NCT02943538 (Archived by WebCite at http://www.webcitation.org/6y4DQdmt8) INTERNATIONAL REGISTERED REPOR DERR1-10.2196/9639


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