Cookies
O website necessita de alguns cookies e outros recursos semelhantes para funcionar. Caso o permita, o INESC TEC irá utilizar cookies para recolher dados sobre as suas visitas, contribuindo, assim, para estatísticas agregadas que permitem melhorar o nosso serviço. Ver mais
Aceitar Rejeitar
  • Menu
Publicações

2021

Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases

Autores
Zurek, B; Ellwanger, K; Vissers, LELM; Schüle, R; Synofzik, M; Töpf, A; de Voer, RM; Laurie, S; Matalonga, L; Gilissen, C; Ossowski, S; ’t Hoen, PAC; Vitobello, A; Schulze Hentrich, JM; Riess, O; Brunner, HG; Brookes, AJ; Rath, A; Bonne, G; Gumus, G; Verloes, A; Hoogerbrugge, N; Evangelista, T; Harmuth, T; Swertz, M; Spalding, D; Hoischen, A; Beltran, S; Graessner, H; Haack, TB; Zurek, B; Ellwanger, K; Demidov, G; Sturm, M; Kessler, C; Wayand, M; Wilke, C; Traschütz, A; Schöls, L; Hengel, H; Heutink, P; Brunner, H; Scheffer, H; Steyaert, W; Sablauskas, K; de Voer, RM; Kamsteeg, E; van de Warrenburg, B; van Os, N; te Paske, I; Janssen, E; de Boer, E; Steehouwer, M; Yaldiz, B; Kleefstra, T; Veal, C; Gibson, S; Wadsley, M; Mehtarizadeh, M; Riaz, U; Warren, G; Dizjikan, FY; Shorter, T; Straub, V; Bettolo, CM; Specht, S; Clayton Smith, J; Banka, S; Alexander, E; Jackson, A; Faivre, L; Thauvin, C; Vitobello, A; Denommé Pichon, A; Duffourd, Y; Tisserant, E; Bruel, A; Peyron, C; Pélissier, A; Beltran, S; Gut, IG; Laurie, S; Piscia, D; Matalonga, L; Papakonstantinou, A; Bullich, G; Corvo, A; Garcia, C; Fernandez Callejo, M; Hernández, C; Picó, D; Paramonov, I; Lochmüller, H; Gumus, G; Bros Facer, V; Hanauer, M; Olry, A; Lagorce, D; Havrylenko, S; Izem, K; Rigour, F; Stevanin, G; Durr, A; Davoine, C; Guillot Noel, L; Heinzmann, A; Coarelli, G; Allamand, V; Nelson, I; Yaou, RB; Metay, C; Eymard, B; Cohen, E; Atalaia, A; Stojkovic, T; Macek, M; Turnovec, M; Thomasová, D; Kremliková, RP; Franková, V; Havlovicová, M; Kremlik, V; Parkinson, H; Keane, T; Senf, A; Robinson, P; Danis, D; Robert, G; Costa, A; Patch, C; Hanna, M; Houlden, H; Reilly, M; Vandrovcova, J; Muntoni, F; Zaharieva, I; Sarkozy, A; Timmerman, V; Baets, J; Van de Vondel, L; Beijer, D; de Jonghe, P; Nigro, V; Banfi, S; Torella, A; Musacchia, F; Piluso, G; Ferlini, A; Selvatici, R; Rossi, R; Neri, M; Aretz, S; Spier, I; Sommer, AK; Peters, S; Oliveira, C; Pelaez, JG; Matos, AR; José, CS; Ferreira, M; Gullo, I; Fernandes, S; Garrido, L; Ferreira, P; Carneiro, F; Swertz, MA; Johansson, L; van der Velde, JK; van der Vries, G; Neerincx, PB; Roelofs Prins, D; Köhler, S; Metcalfe, A; Verloes, A; Drunat, S; Rooryck, C; Trimouille, A; Castello, R; Morleo, M; Pinelli, M; Varavallo, A; De la Paz, MP; Sánchez, EB; Martín, EL; Delgado, BM; de la Rosa, FJAG; Ciolfi, A; Dallapiccola, B; Pizzi, S; Radio, FC; Tartaglia, M; Renieri, A; Benetti, E; Balicza, P; Molnar, MJ; Maver, A; Peterlin, B; Münchau, A; Lohmann, K; Herzog, R; Pauly, M; Macaya, A; Marcé Grau, A; Osorio, AN; de Benito, DN; Lochmüller, H; Thompson, R; Polavarapu, K; Beeson, D; Cossins, J; Cruz, PMR; Hackman, P; Johari, M; Savarese, M; Udd, B; Horvath, R; Capella, G; Valle, L; Holinski Feder, E; Laner, A; Steinke Lange, V; Schröck, E; Rump, A;

Publicação
EUROPEAN JOURNAL OF HUMAN GENETICS

Abstract
For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient’s data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe.

2021

Rosy: An elegant language to teach the pure reactive nature of robot programming

Autores
Pacheco, H; Macedo, N;

Publicação
International Journal of Robotic Computing

Abstract
Robotics is very appealing and is long recognized as a great way to teach programming, while drawing inspiring connections to other branches of engineering and science such as maths, physics or electronics. Although this symbiotic relationship between robotics and programming is perceived as largely beneficial, educational approaches often feel the need to hide the underlying complexity of the robotic system, but as a result fail to transmit the reactive essence of robot programming to the roboticists and programmers of the future. This paper presents Rosy, a novel language for teaching novice programmers through robotics. Its functional style is both familiar with a high-school algebra background and a materialization of the inherent reactive nature of robotic programming. Working at a higher-level of abstraction also teaches valuable design principles of decomposition of robotics software into collections of interacting controllers. Despite its simplicity, Rosy is completely valid Haskell code compatible with the ROS~ecosystem. We make a convincing case for our language by demonstrating how non-trivial applications can be expressed with ease and clarity, exposing its sound functional programming foundations, and developing a web-enabled robot programming environment.

2021

Finding NeMo: Fishing in Banking Networks Using Network Motifs

Autores
Fontes, X; Aparício, D; Silva, MI; Malveiro, B; Ascensão, JT; Bizarro, P;

Publicação
Proceedings of the 2nd Workshop on Search, Exploration, and Analysis in Heterogeneous Datastores (SEA-Data 2021) co-located with 47th International Conference on Very Large Data Bases (VLDB 2021), Copenhagen, Denmark, August 20, 2021.

Abstract

2021

The impact of technology usage on love and intimacy satisfaction among Portuguese adults

Autores
Gomes, M; Vasconcelos Raposo, J; Teixeira, CM;

Publicação
Computers in Human Behavior Reports

Abstract
Phubbing, the act of ignoring someone to use the smartphone, has been a concern because of its consequences on social interaction. The present study aims to verify the phubbing practice's impact on satisfaction with a loving relationship and intimacy. This study was a quasi-experimental, cross-sectional, and quantitative study. The sample consisted of 384 individuals, 255 women, and 129 men. A sociodemographic questionnaire and instruments were applied Phubbing Scale (PS), Mobile Phone Usage Addiction Scale (MPUAS), Internet Addiction Scale (IAS), Social Media Addiction Scale (SMAS), Game Addiction Scale (GAS), SMS Addiction Scale (SAS), Relationship Assessment Scale (RAS) and Psychological Intimacy Scale (PIS). The statistical program used for data analysis was the Statistical Package for the Social Sciences (SPSS). The only dimensions of phubbing that influenced satisfaction with the love relationship were the communication disturbance, and in women, the difficulties of controlling the smartphone's use, and the need to share on social media. Results showed that: 1- satisfaction with the relationship is associated with the levels of intimacy. Another finding was that intimacy is related to a communication disturbance and phone obsession in women and difficulties in controlling smartphone use in men. © 2021

2021

Understanding Hypotheses Engineering in Software Startups through a Gray Literature Review

Autores
Melegati, J; Guerra, E; Wang, X;

Publicação
Inf. Softw. Technol.

Abstract

2021

ECG Biometrics

Autores
Pinto, JR; Cardoso, JS;

Publicação
Encyclopedia of Cryptography, Security and Privacy

Abstract

  • 1389
  • 4535