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Publicações

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

Exploring the Impact of Resampling Methods for Malware Detection

Autores
Branco, P;

Publicação
IEEE International Conference on Big Data, Big Data 2020, Atlanta, GA, USA, December 10-13, 2020

Abstract

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).

2020

Proof-of-concept study on a wave energy converter based on the roll oscillations of multipurpose offshore floating platforms

Autores
Clemente, D; Rosa Santos, P; Taveira Pinto, F; Martins, P; Paulo Moreira, A;

Publicação
ENERGY CONVERSION AND MANAGEMENT

Abstract
Inspired by observing the motions of vessels at sea, the E-Motions has been proposed as an innovative concept capable of converting wave (and wind) induced roll oscillations on multipurpose offshore floating platforms into electricity. The device can be integrated, theoretically, into any type of offshore floating structure, given its simple 3-component design: floating platform, encasing and sliding Power Take-Off. This latter component can be sheltered from the marine environment by being placed within a casing, at deck level, or the hull of the offshore structure. With so much potential for application at sea, it was important to subject the E-Motions to an initial proof-of-concept, as done for other wave energy converters. This paper presents and discusses the main results and conclusions of an experimental study, carried out with a 1:40 reduced scale physical model, aimed at demonstrating the technical and technological viability of the E-Motions. It was found that, for the considered study variables, the device can operate without major incident and convert electricity from wave induced roll oscillations. Four ballast configurations were considered, of which two yielded higher power outputs. The average measured power reached as high as 11 kW and 13 kW, respectively, with the values reducing for wave period further away from the resonance range and lower wave heights. Power Take-Off damping was found to be an important variable that can considerably influence the energy generation process, yet it will be imperative to further assess this variable in combination with other pertinent variables, such as an external attached mass and different generators. This is key to better understand and describe the complex and non-linear relationship between the motions of the Power Take-Off and the floating platform components.

2020

BESS modeling: Investigating the role of auxiliary system consumption in efficiency derating

Autores
Rancilio G.; Merlo M.; Lucas A.; Kotsakis E.; Delfanti M.;

Publicação
2020 International Symposium on Power Electronics Electrical Drives Automation and Motion Speedam 2020

Abstract
Large-scale Battery Energy Storage System (BESS) capacity installed for stationary applications is rising in the first decades of 21st century. Business models related to BESS highly depend on BESS lifetime. BESS lifetime can be preserved only if accurate thermal management of the assets allows to keep it at design temperature. Auxiliary systems' needs for cooling and heating the BESS cannot be disregarded while modeling the real-world operation of these facilities. In this paper we propose an improved protocol for organic modeling of large-scale BESS grid-connected. We assess the share of losses and the operational efficiency related to the provision of ancillary services to the network by BESS in different seasons and different working conditions. We highlight that BESS efficiency increases in case the system is constantly exploited, avoiding time idle or at low power. The model proposed, with respect to standard techniques, allows to better represent BESS performance. Indeed, just by disregarding the losses related to thermal management of the assets (as it is for standard modeling techniques), errors committed are up to 10%.

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