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2021
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
Autores
Schüle, R; Timmann, D; Erasmus, CE; Reichbauer, J; Wayand, M; Baets, J; Balicza, P; Chinnery, P; Dürr, A; Haack, T; Hengel, H; Horvath, R; Houlden, H; Kamsteeg, E; Kamsteeg, C; Lohmann, K; Macaya, A; Marcé Grau, A; Maver, A; Molnar, J; Münchau, A; Peterlin, B; Riess, O; Schöls, L; Schüle, R; Stevanin, G; Synofzik, M; Timmerman, V; van de Warrenburg, B; van Os, N; Vandrovcova, J; Wayand, M; Wilke, C; van de Warrenburg, B; Schöls, L; Wilke, C; Bevot, A; Zuchner, S; Beltran, S; Laurie, S; Matalonga, L; Graessner, H; Synofzik, M; Graessner, H; Zurek, B; Ellwanger, K; Ossowski, S; Demidov, G; Sturm, M; Schulze Hentrich, JM; Heutink, P; Brunner, H; Scheffer, H; Hoogerbrugge, N; Hoischen, A; ’t Hoen, PAC; Vissers, LELM; Gilissen, C; Steyaert, W; Sablauskas, K; de Voer, RM; Janssen, E; de Boer, E; Steehouwer, M; Yaldiz, B; Kleefstra, T; Brookes, AJ; Veal, C; Gibson, S; Wadsley, M; Mehtarizadeh, M; Riaz, U; Warren, G; Dizjikan, FY; Shorter, T; Töpf, A; 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; Rath, A; Hanauer, M; Olry, A; Lagorce, D; Havrylenko, S; Izem, K; Rigour, F; Durr, A; Davoine, C; Guillot Noel, L; Heinzmann, A; Coarelli, G; Bonne, G; Evangelista, T; 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; Spalding, D; 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; 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
2021
Autores
Schüle, R; Timmann, D; Erasmus, CE; Reichbauer, J; Wayand, M; Baets, J; Balicza, P; Chinnery, P; Dürr, A; Haack, T; Hengel, H; Horvath, R; Houlden, H; Kamsteeg, EJ; Kamsteeg, C; Lohmann, K; Macaya, A; Marcé Grau, A; Maver, A; Molnar, J; Münchau, A; Peterlin, B; Riess, O; Schöls, L; Schüle, R; Stevanin, G; Synofzik, M; Timmerman, V; van de Warrenburg, B; van Os, N; Vandrovcova, J; Wayand, M; Wilke, C; van de Warrenburg, B; Schöls, L; Wilke, C; Bevot, A; Zuchner, S; Beltran, S; Laurie, S; Matalonga, L; Graessner, H; Synofzik, M; Graessner, H; Zurek, B; Ellwanger, K; Ossowski, S; Demidov, G; Sturm, M; Schulze Hentrich, JM; Heutink, P; Brunner, H; Scheffer, H; Hoogerbrugge, N; Hoischen, A; ’t Hoen, PAC; Vissers, LELM; Gilissen, C; Steyaert, W; Sablauskas, K; de Voer, RM; Janssen, E; de Boer, E; Steehouwer, M; Yaldiz, B; Kleefstra, T; Brookes, AJ; Veal, C; Gibson, S; Wadsley, M; Mehtarizadeh, M; Riaz, U; Warren, G; Dizjikan, FY; Shorter, T; Töpf, A; Straub, V; Bettolo, CM; Specht, S; Clayton Smith, J; Banka, S; Alexander, E; Jackson, A; Faivre, L; Thauvin, C; Vitobello, A; Denommé Pichon, AS; Duffourd, Y; Tisserant, E; Bruel, AL; 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; Rath, A; Hanauer, M; Olry, A; Lagorce, D; Havrylenko, S; Izem, K; Rigour, F; Durr, A; Davoine, CS; Guillot Noel, L; Heinzmann, A; Coarelli, G; Bonne, G; Evangelista, T; 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; Spalding, D; 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; 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
In the original publication of the article, consortium author lists were missing in the article. © 2021, The Author(s).
2021
Autores
Silva, J; Oliveira, M; Ferreira, A;
Publicação
28TH EUROPEAN SIGNAL PROCESSING CONFERENCE (EUSIPCO 2020)
Abstract
Whispered-voice to normal-voice conversion is typically achieved using codec-based analysis and re-synthesis, using statistical conversion of important spectral and prosodic features, or using data-driven end-to-end signal conversion. These approaches are however highly constrained by the architecture of the codec, the statistical projection, or the size and quality of the training data. In this paper, we presume direct implantation of voiced phonemes in whispered speech and we focus on fully flexible parametric models that i) can be independently controlled, ii) synthesize natural and linguistically correct voiced phonemes, iii) preserve idiosyncratic characteristics of a given speaker, and iv) are amenable to co-articulation effects through simple model interpolation. We use natural spoken and sung vowels to illustrate these capabilities in a signal modeling and re-synthesis process where spectral magnitude, phase structure, F-0 contour and sound morphing can be independently controlled in arbitrary ways.
2021
Autores
Silva, VF; Silva, ME; Ribeiro, P; Silva, F;
Publicação
WILEY INTERDISCIPLINARY REVIEWS-DATA MINING AND KNOWLEDGE DISCOVERY
Abstract
There is nowadays a constant flux of data being generated and collected in all types of real world systems. These data sets are often indexed by time, space, or both requiring appropriate approaches to analyze the data. In univariate settings, time series analysis is a mature field. However, in multivariate contexts, time series analysis still presents many limitations. In order to address these issues, the last decade has brought approaches based on network science. These methods involve transforming an initial time series data set into one or more networks, which can be analyzed in depth to provide insight into the original time series. This review provides a comprehensive overview of existing mapping methods for transforming time series into networks for a wide audience of researchers and practitioners in machine learning, data mining, and time series. Our main contribution is a structured review of existing methodologies, identifying their main characteristics, and their differences. We describe the main conceptual approaches, provide authoritative references and give insight into their advantages and limitations in a unified way and language. We first describe the case of univariate time series, which can be mapped to single layer networks, and we divide the current mappings based on the underlying concept: visibility, transition, and proximity. We then proceed with multivariate time series discussing both single layer and multiple layer approaches. Although still very recent, this research area has much potential and with this survey we intend to pave the way for future research on the topic. This article is categorized under: Fundamental Concepts of Data and Knowledge > Data Concepts Fundamental Concepts of Data and Knowledge > Knowledge Representation
2021
Autores
Pinto, H; Pernice, R; Amado, C; Silva, ME; Javorka, M; Faes, L; Rocha, AP;
Publicação
2021 43RD ANNUAL INTERNATIONAL CONFERENCE OF THE IEEE ENGINEERING IN MEDICINE & BIOLOGY SOCIETY (EMBC)
Abstract
Heart Period (H) results from the activity of several coexisting control mechanisms, involving Systolic Arterial Pressure (S) and Respiration (R), which operate across multiple time scales encompassing not only short-term dynamics but also long-range correlations. In this work, multiscale representation of Transfer Entropy (TE) and of its decomposition in the network of these three interacting processes is obtained by extending the multivariate approach based on linear parametric VAR models to the Vector AutoRegressive Fractionally Integrated (VARFI) framework for Gaussian processes. This approach allows to dissect the different contributions to cardiac dynamics accounting for the simultaneous presence of short and long term dynamics. The proposed method is first tested on simulations of a benchmark VARFI model and then applied to experimental data consisting of H, S and R time series measured in healthy subjects monitored at rest and during mental and postural stress. The results reveal that the proposed method can highlight the dependence of the information transfer on the balance between short-term and long-range correlations in coupled dynamical systems.
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