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Publicações

2020

Evaluating the quality of an online course in information literacy applied to engineering students

Autores
Ramos, TO; Morais, C; Ribeiro, C;

Publicação
Handbook of Research on Determining the Reliability of Online Assessment and Distance Learning

Abstract
An academic library created an online course in information literacy skills in 2007 for engineering students. This chapter reports the evaluation of the course's effectiveness in developing those skills. In the academic year 2015/2016, a case study with a mixed-methods approach was applied to 5th-year students (N=91) enrolled in a course unit for Master Dissertation's preparation in the informatics and computing engineering programme. Students showed high confidence in their information literacy skills. Online assignments' performance was good, but activities revealed quality issues. Performance in the course unit's assignments reveals a poor application of acquired skills. But satisfaction is high: students value independent learning and online access to resources and content. Despite evidence of some positive impact, the course lacks effectiveness due to issues in the course unit's assignments. Needed improvements include a better realignment with students' needs and a redesign with an instructional model to assure the promotion of students' success. © 2021 by IGI Global. All rights reserved.

2020

Creativity in Prototypes Design: The case of Social Organizations

Autores
Silveira, C; Santos, V; Reis, L; Mamede, H;

Publicação
2020 15TH IBERIAN CONFERENCE ON INFORMATION SYSTEMS AND TECHNOLOGIES (CISTI'2020)

Abstract
The study of creativity in the design of prototypes for an organization is of particular interest given its potential for innovation. This article proposes an approach to the design of prototypes using creativity techniques and including sustainability concerns. The application of the approach is illustrated by presenting a real case of development of an aggregator and multidisciplinary prototype for the optimization of social services. The approach includes guidelines for the use of creativity techniques in requirements engineering and for incorporating sustainability concerns.

2020

Designing a Serious Game for Myoelectric Prosthesis Control

Autores
Bessa, D; Rodrigues, NF; Oliveira, E; Kolbenschag, J; Prahm, C;

Publicação
2020 IEEE 8th International Conference on Serious Games and Applications for Health, SeGAH 2020

Abstract
As an amputee, learning how to control a myoelectric prosthesis is a difficult task. One of the main issues with conventional, highly repetitive, rehabilitation methods is the lack of engagement and motivation of the patients that often leads to high rejection rates of the prosthetic device. This work proposes and implements a novel serious game design, improving previous work, as music-based app. The prototype was evaluated by seven able-bodied participants with regard system usability and engagement. Results suggest positive outcomes in motivation, but room for improvement in system usability. © 2020 IEEE.

2020

A vast resource of allelic expression data spanning human tissues

Autores
Castel S.E.; Aguet F.; Aguet F.; Aguet F.; Mohammadi P.; Mohammadi P.; Anand S.; Anand S.; Ardlie K.G.; Ardlie K.G.; Gabriel S.; Getz G.A.; Graubert A.; Graubert A.; Hadley K.; Hadley K.; Handsaker R.E.; Handsaker R.E.; Huang K.H.; Kashin S.; Kashin S.; Li X.; MacArthur D.G.; Meier S.R.; Meier S.R.; Nedzel J.L.; Nedzel J.L.; Nguyen D.T.; Segrè A.V.; Todres E.; Todres E.; Balliu B.; Barbeira A.N.; Battle A.; Bonazzola R.; Brown A.; Brown C.D.; Castel S.E.; Conrad D.F.; Cotter D.J.; Cox N.; Das S.; De Goede O.M.; Dermitzakis E.T.; Einson J.; Engelhardt B.E.; Eskin E.; Eulalio T.Y.; Ferraro N.M.; Flynn E.D.; Fresard L.; Gamazon E.R.; Garrido-Martín D.; Gay N.R.; Gloudemans M.J.; Guigó R.; Hame A.R.; He Y.; Hoffman P.J.; Hormozdiari F.; Hou L.; Huang K.H.; Im H.K.; Jo B.; Kasela S.; Kellis M.; Kim-Hellmuth S.; Kwong A.; Lappalainen T.; Li X.; Li X.; Liang Y.; Mangul S.; Montgomery S.B.; Muñoz-Aguirre M.; Nachun D.C.; Nguyen D.T.; Nobel A.B.; Oliva M.; Park Y.S.; Park Y.; Parsana P.; Rao A.S.; Reverter F.; Rouhana J.M.; Sabatti C.; Saha A.; Segrè A.V.; Skol A.D.; Stephens M.; Stranger B.E.; Strober B.J.; Teran N.A.; Viñuela A.; Wang G.; Wen X.; Wright F.; Wucher V.; Zou Y.; Ferreira P.G.;

Publicação
Genome Biology

Abstract
Allele expression (AE) analysis robustly measures cis-regulatory effects. Here, we present and demonstrate the utility of a vast AE resource generated from the GTEx v8 release, containing 15,253 samples spanning 54 human tissues for a total of 431 million measurements of AE at the SNP level and 153 million measurements at the haplotype level. In addition, we develop an extension of our tool phASER that allows effect sizes of cis-regulatory variants to be estimated using haplotype-level AE data. This AE resource is the largest to date, and we are able to make haplotype-level data publicly available. We anticipate that the availability of this resource will enable future studies of regulatory variation across human tissues.

2020

Healthcare Innovative Projects Co-promotion Between Higher Education Institution and a Private Organization of Social Solidarity

Autores
Vasconcelos, V; Bigotte, E; Marques, L;

Publicação
2020 15TH IBERIAN CONFERENCE ON INFORMATION SYSTEMS AND TECHNOLOGIES (CISTI'2020)

Abstract
Innovation and research in Higher Education Institutions (HEI) are closely linked with its teaching purpose. On the other hand, the social responsibility of HEI is, more and more, a mission that they must also embrace. This paper highlights the importance of carrying out projects in co-promotion between HEI and Third Sector Organizations as, for instance, Private Social Solidarity Institutions (IPSS), for all involved partners, but above all, in the contribution to solve community problems. Three projects are presented that results from the articulation between Coimbra Institute of Engineering (ISEC) and the IPSS-CASPAE, which have contributed to a positive social impact and the production of scientific knowledge. These projects aim to improve the quality of life of its users, encourage active ageing and collaborate with health professionals in the area of rehabilitation and neurodegenerative diseases, specially Parkinson Disease.

2020

Pan-cancer analysis of whole genomes

Autores
The ICGC/TCGA Pan-Cancer Analysis of Whole Genomes Consortium,;

Publicação
NATURE

Abstract
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).

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