SNPViz v2.0: A web-based tool for enhanced haplotype analysis using large scale resequencing datasets and discovery of phenotypes causative gene using allelic variations

2020 ◽  
Author(s):  
Shuai Zeng ◽  
Maria Skrabisova ◽  
Zhen Lyu ◽  
Yen On Chan ◽  
Kristin Bilyeu ◽  
...  
Keyword(s):  
Large Scale ◽  
Haplotype Analysis ◽  
Causative Gene ◽  
Web Based ◽  
Allelic Variations

Using Web-based Testing for Large-Scale Assessment

2013 ◽  
Author(s):  
Laura S. Hamilton ◽  
Stephen P. Klein ◽  
William Lorie
Keyword(s):  
Large Scale ◽  
Web Based ◽  
Large Scale Assessment ◽  
Scale Assessment

Impact of COVID-19 on Nuclear Medicine in Germany, Austria and Switzerland: An International Survey in April 2020

2020 ◽  
Vol 59 (04) ◽  
pp. 294-299 ◽  
Author(s):  
Lutz S. Freudenberg ◽  
Ulf Dittmer ◽  
Ken Herrmann
Keyword(s):  
Nuclear Medicine ◽  
Health Systems ◽  
Personal Protective Equipment ◽  
Large Scale ◽  
Diagnostic Procedures ◽  
Protective Equipment ◽  
Current Crisis ◽  
Web Based ◽  
Public Versus Private ◽  
The Impact

Abstract Introduction Preparations of health systems to accommodate large number of severely ill COVID-19 patients in March/April 2020 has a significant impact on nuclear medicine departments. Materials and Methods A web-based questionnaire was designed to differentiate the impact of the pandemic on inpatient and outpatient nuclear medicine operations and on public versus private health systems, respectively. Questions were addressing the following issues: impact on nuclear medicine diagnostics and therapy, use of recommendations, personal protective equipment, and organizational adaptations. The survey was available for 6 days and closed on April 20, 2020. Results 113 complete responses were recorded. Nearly all participants (97 %) report a decline of nuclear medicine diagnostic procedures. The mean reduction in the last three weeks for PET/CT, scintigraphies of bone, myocardium, lung thyroid, sentinel lymph-node are –14.4 %, –47.2 %, –47.5 %, –40.7 %, –58.4 %, and –25.2 % respectively. Furthermore, 76 % of the participants report a reduction in therapies especially for benign thyroid disease (-41.8 %) and radiosynoviorthesis (–53.8 %) while tumor therapies remained mainly stable. 48 % of the participants report a shortage of personal protective equipment. Conclusions Nuclear medicine services are notably reduced 3 weeks after the SARS-CoV-2 pandemic reached Germany, Austria and Switzerland on a large scale. We must be aware that the current crisis will also have a significant economic impact on the healthcare system. As the survey cannot adapt to daily dynamic changes in priorities, it serves as a first snapshot requiring follow-up studies and comparisons with other countries and regions.

scholarly journals Age impairs mnemonic discrimination of objects more than scenes: A web-based, large-scale approach across the lifespan

Cortex ◽  
2021 ◽  
Vol 137 ◽  
pp. 138-148
Author(s):  
Jeremie Güsten ◽  
Gabriel Ziegler ◽  
Emrah Düzel ◽  
David Berron
Keyword(s):  
Large Scale ◽  
Web Based

scholarly journals Evaluation of dietary intake assessed by the Dutch self-administered web-based dietary 24-h recall tool (Compl-eat™) against interviewer-administered telephone-based 24-h recalls

2017 ◽  
Vol 6 ◽  
Author(s):  
Saskia Meijboom ◽  
Martinette T. van Houts-Streppel ◽  
Corine Perenboom ◽  
Els Siebelink ◽  
Anne M. van de Wiel ◽  
...  
Keyword(s):  
Dietary Intake ◽  
Large Scale ◽  
Alcohol Intake ◽  
Lower Number ◽  
Vitamin B ◽  
Food Groups ◽  
Web Based ◽  
The Web

AbstractSelf-administered web-based 24-h dietary recalls (24 hR) may save a lot of time and money as compared with interviewer-administered telephone-based 24 hR interviews and may therefore be useful in large-scale studies. Within the Nutrition Questionnaires plus (NQplus) study, the web-based 24 hR tool Compl-eat™ was developed to assess Dutch participants’ dietary intake. The aim of the present study was to evaluate the performance of this tool against the interviewer-administered telephone-based 24 hR method. A subgroup of participants of the NQplus study (20–70 years, n 514) completed three self-administered web-based 24 hR and three telephone 24 hR interviews administered by a dietitian over a 1-year period. Compl-eat™ as well as the dietitians guided the participants to report all foods consumed the previous day. Compl-eat™ on average underestimated the intake of energy by 8 %, of macronutrients by 10 % and of micronutrients by 13 % as compared with telephone recalls. The agreement between both methods, estimated using Lin's concordance coefficients (LCC), ranged from 0·15 for vitamin B1 to 0·70 for alcohol intake (mean LCC 0·38). The lower estimations by Compl-eat™ can be explained by a lower number of total reported foods and lower estimated intakes of the food groups, fats, oils and savoury sauces, sugar and confectionery, dairy and cheese. The performance of the tool may be improved by, for example, adding an option to automatically select frequently used foods and including more recall cues. We conclude that Compl-eat™ may be a useful tool in large-scale Dutch studies after suggested improvements have been implemented and evaluated.

scholarly journals Comparison of a web-based food record tool and a food-frequency questionnaire and objective validation using the doubly labelled water technique in a Swedish middle-aged population

2016 ◽  
Vol 5 ◽  
Author(s):  
Sanna Nybacka ◽  
Heléne Bertéus Forslund ◽  
Elisabet Wirfält ◽  
Ingrid Larsson ◽  
Ulrika Ericson ◽  
...  
Keyword(s):  
Energy Intake ◽  
Large Scale ◽  
Dietary Assessment ◽  
Assessment Tools ◽  
Future Research ◽  
Food Record ◽  
Frequency Method ◽  
Doubly Labelled Water ◽  
Web Based ◽  
Food Frequency

AbstractTwo web-based dietary assessment tools have been developed for use in large-scale studies: the Riksmaten method (4-d food record) and MiniMeal-Q (food-frequency method). The aim of the present study was to examine the ability of these methods to capture energy intake against objectively measured total energy expenditure (TEE) with the doubly labelled water technique (TEEDLW), and to compare reported energy and macronutrient intake. This study was conducted within the pilot study of the Swedish CArdioPulmonary bioImage Study (SCAPIS), which included 1111 randomly selected men and women aged 50–64 years from the Gothenburg general population. Of these, 200 were enrolled in the SCAPIS diet substudy. TEEDLW was measured in a subsample (n 40). Compared with TEEDLW, both methods underestimated energy intake: −2·5 (sd  2·9) MJ with the Riksmaten method; −2·3 (sd 3·6) MJ with MiniMeal-Q. Mean reporting accuracy was 80 and 82 %, respectively. The correlation between reported energy intake and TEEDLW was r 0·4 for the Riksmaten method (P < 0·05) and r 0·28 (non-significant) for MiniMeal-Q. Women reported similar average intake of energy and macronutrients in both methods whereas men reported higher intakes with the Riksmaten method. Energy-adjusted correlations ranged from 0·14 (polyunsaturated fat) to 0·77 (alcohol). Bland–Altman plots showed acceptable agreement for energy and energy-adjusted protein and carbohydrate intake, whereas the agreement for fat intake was poorer. According to energy intake data, both methods displayed similar precision on energy intake reporting. However, MiniMeal-Q was less successful in ranking individuals than the Riksmaten method. The development of methods to achieve limited under-reporting is a major challenge for future research.

A large-scale Web-based virtual oscilloscope laboratory experiment

2000 ◽  
Vol 9 (2) ◽  
pp. 69-76 ◽  
Author(s):  
C.C. Ko ◽  
S.H. Chen ◽  
Y. Zhuang ◽  
S.Y. Hu ◽  
V. Ramakrishnan ◽  
...  
Keyword(s):  
Laboratory Experiment ◽  
Large Scale ◽  
Web Based

scholarly journals CrosstalkNet: mining large-scale bipartite co-expression networks to characterize epi-stroma crosstalk

2017 ◽  
Author(s):  
Venkata Manem ◽  
George Adam ◽  
Tina Gruosso ◽  
Mathieu Gigoux ◽  
Nicholas Bertos ◽  
...  
Keyword(s):  
Stromal Cells ◽  
Large Scale ◽  
Network Visualization ◽  
Visualization Tool ◽  
Biological Processes ◽  
Web Based ◽  
Link Type ◽  
A Cell ◽  
Large Scale Networks ◽  
User Friendly

ABSTRACTBackground:Over the last several years, we have witnessed the metamorphosis of network biology from being a mere representation of molecular interactions to models enabling inference of complex biological processes. Networks provide promising tools to elucidate intercellular interactions that contribute to the functioning of key biological pathways in a cell. However, the exploration of these large-scale networks remains a challenge due to their high-dimensionality.Results:CrosstalkNet is a user friendly, web-based network visualization tool to retrieve and mine interactions in large-scale bipartite co-expression networks. In this study, we discuss the use of gene co-expression networks to explore the rewiring of interactions between tumor epithelial and stromal cells. We show how CrosstalkNet can be used to efficiently visualize, mine, and interpret large co-expression networks representing the crosstalk occurring between the tumour and its microenvironment.Conclusion:CrosstalkNet serves as a tool to assist biologists and clinicians in exploring complex, large interaction graphs to obtain insights into the biological processes that govern the tumor epithelial-stromal crosstalk. A comprehensive tutorial along with case studies are provided with the application.Availability:The web-based application is available at the following location: http://epistroma.pmgenomics.ca/app/. The code is open-source and freely available from http://github.com/bhklab/EpiStroma-webapp.Contact:[email protected]

scholarly journals A Natural History Comparison of SOD1-Mutant Patients with Amyotrophic Lateral Sclerosis between Chinese and German Populations

2021 ◽  
Author(s):  
Lu Tang ◽  
Johannes Dorst ◽  
Lu Chen ◽  
Xiaolu Liu ◽  
Yan Ma ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Large Scale ◽  
Age Of Onset ◽  
Diagnostic Delay ◽  
Chinese Patients ◽  
Common Mutation ◽  
Progression Rate ◽  
Causative Gene ◽  
Sod1 Mutant ◽  
Lateral Sclerosis

Abstract Background: The gene coding the Cu/Zn superoxide dismutase ( SOD1 ) was the first-identified causative gene of amyotrophic lateral sclerosis (ALS), and the second most common genetic cause for ALS worldwide. The promising therapeutic approaches targeting SOD1 mutations are on the road. The purpose of the present study was to compare the mutational and clinical features of Chinese and German patients with ALS carrying mutations in SOD1 gene, which will facilitate the strategy and design of SOD1 -targeted trials.Methods: Demographic and clinical characteristics were collected from two longitudinal cohorts in China and Germany. Chinese and German patients carrying SOD1 mutations were compared with regard to mutational distribution, age of onset, site of onset, body mass index (BMI) at diagnosis, diagnostic delay, progression rate, and survival.Results: A total of 66 Chinese and 84 German patients with 69 distinct SOD1 mutations were identified. The most common mutation in both populations was p.His47Arg. It was found in 8 Chinese and 2 German patients and consistently showed a slow progression of disease in both countries. Across all mutations, Chinese patients showed a younger age of onset (43.9 vs 49.9 years, p=0.002), a higher proportion of young-onset cases (62.5% vs 30.7%, p<0.001) and a lower BMI at diagnosis (22.8 vs 26.0, p<0.001) compared to German patients. Although riluzole intake was less frequent in Chinese patients (28.3% vs 81.3%, p<0.001), no difference in survival between populations was observed (p=0.90). Across both cohorts, female patients had a longer diagnostic delay (15.0 vs 11.0 months, p=0.01) and a prolonged survival (248.0 vs 60.0 months, p=0.005) compared to male patients.Conclusions: Our data demonstrate the distinct mutational and clinical spectrums of SOD1 -mutant patients in Asian and European populations. Clinical phenotypes seem to be primarily influenced by mutation-specific, albeit not excluding ethnicity-specific factors. Further large-scale transethnical studies are needed to clarify determinants and modifiers of SOD1 phenotypes.

scholarly journals A web-based, branching logic questionnaire for the automated classification of migraine

2018 ◽  
Author(s):  
Eric A. Kaiser ◽  
Aleksandra Igdalova ◽  
Geoffrey K. Aguirre ◽  
Brett Cucchiara
Keyword(s):  
Migraine Without Aura ◽  
Large Scale ◽  
Automated Analysis ◽  
Automated Classification ◽  
Online Questionnaire ◽  
Demographic Differences ◽  
Web Based ◽  
Online Evaluation ◽  
Automated Algorithm

AbstractObjectiveTo identify migraineurs and headache-free individuals with an online questionnaire and automated analysis algorithm.MethodsWe created a branching-logic, web-based questionnaire—the Penn Online Evaluation of Migraine (POEM)—to obtain standardized headache history from a previously studied cohort. Responses were analyzed with an automated algorithm to assign subjects to one of several categories based on ICHD-3 (beta) criteria. Following a pre-registered protocol, this result was compared to prior diagnostic classification by a neurologist following a direct interview.ResultsOf 118 subjects contacted, 90 (76%) completed the questionnaire; of these 31 were headache-free, 29 migraine without aura (MwoA), and 30 migraine with aura (MwA). Mean age was 41 ± 6 years and 76% were female. There were no significant demographic differences between groups. The median time to complete the questionnaire was 2.5 minutes. Sensitivity of the POEM tool was 42%, 59%, and 70%, and specificity was 100%, 84%, and 94% for headache-free, MwoA, and MwA, respectively. Sensitivity and specificity of the POEM tool for migraine overall (with or without aura), was 83% and 90%, respectively.ConclusionsThe POEM web-based questionnaire, and associated analysis routines, identifies headache-free and migraine subjects with good specificity. It may be useful for classifying subjects for large-scale research studies.Trial Registration:https://osf.io/sq9ef

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