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@ARTICLE{Matalonga:155538,
      author       = {Matalonga, Leslie and Hernández-Ferrer, Carles and Piscia,
                      Davide and Schüle-Freyer, Rebecca and Synofzik, Matthis and
                      Töpf, Ana and Vissers, Lisenka E L M and de Voer, Richarda
                      and Tonda, Raul and Laurie, Steven and Fernandez-Callejo,
                      Marcos and Picó, Daniel and Garcia-Linares, Carles and
                      Papakonstantinou, Anastasios and Corvó, Alberto and Joshi,
                      Ricky and Diez, Hector and Gut, Ivo and Hoischen, Alexander
                      and Graessner, Holm and Beltran, Sergi and Cohen, Enzo and
                      Cuesta, Isabel and Danis, Daniel and Denommé-Pichon,
                      Anne-Sophie and Duffourd, Yannis and Gilissen, Christian and
                      Johari, Mridul and Laurie, Steven and Li, Shuang and
                      Matalonga, Leslie and Nelson, Isabelle and Peters, Sophia
                      and Paramonov, Ida and Prasanth, Sivakumar and Robinson,
                      Peter and Sablauskas, Karolis and Savarese, Marco and
                      Steyaert, Wouter and van der Velde, Joeri K and Vitobello,
                      Antonio and Aretz, Stefan and Capella, Gabriel and de Voer,
                      Richarda M and Evans, Gareth and Pelaez, Jose Garcia and
                      Holinski-Feder, Elke and Hoogerbrugge, Nicoline and Laner,
                      Andreas and Oliveira, Carla and Rump, Andreas and Schröck,
                      Evelin and Sommer, Anna Katharina and Steinke-Lange, Verena
                      and Paske, Iris Te and Tischkowitz, Marc and Valle, Laura
                      and Banka, Siddharth and Benetti, Elisa and Casari, Giorgio
                      and Ciolfi, Andrea and Clayton-Smith, Jill and Dallapiccola,
                      Bruno and de Boer, Elke and Denommé-Pichon, Anne-Sophie and
                      Ellwanger, Kornelia and Faivre, Laurence and Graessner, Holm
                      and Haack, Tobias B and Hammarsjö, Anna and Havlovicova,
                      Marketa and Hoischen, Alexander and Hugon, Anne and Jackson,
                      Adam and Kleefstra, Tjitske and Lindstrand, Anna and
                      López-Martín, Estrella and Macek, Milan and Morleo,
                      Manuela and Nigro, Vicenzo and Nordgren, Ann and Pettersson,
                      Maria and Pinelli, Michele and Pizzi, Simone and Posada,
                      Manuel and Radio, Francesca Clementina and Renieri,
                      Alessandra and Rooryck, Caroline and Ryba, Lukas and
                      Schwarz, Martin and Tartaglia, Marco and Thauvin, Christel
                      and Torella, Annalaura and Trimouille, Aurélien and
                      Verloes, Alain and Vissers, Lisenka and Vitobello, Antonio
                      and Votypka, Pavel and Vyshka, Klea and Zurek, Birte and
                      Baets, Jonathan and Beijer, Danique and Bonne, Gisèle and
                      Cohen, Enzo and Cossins, Judith and Evangelista, Teresinha
                      and Ferlini, Alessandra and Hackman, Peter and Hanna,
                      Michael G and Horvath, Rita and Houlden, Henry and Johari,
                      Mridul and Lau, Jarred and Lochmüller, Hanns and Macken,
                      William L and Musacchia, Francesco and Nascimento, Andres
                      and Natera-de Benito, Daniel and Nigro, Vincenzo and Piluso,
                      Giulio and Pini, Veronica and Pitceathly, Robert D S and
                      Polavarapu, Kiran and Cruz, Pedro M Rodriguez and Sarkozy,
                      Anna and Savarese, Marco and Selvatici, Rita and Thompson,
                      Rachel and Udd, Bjarne and Van de Vondel, Liedewei and
                      Vandrovcova, Jana and Zaharieva, Irina and Baets, Jonathan
                      and Balicza, Peter and Chinnery, Patrick and Dürr,
                      Alexandra and Haack, Tobias and Hengel, Holger and Houlden,
                      Henry and Kamsteeg, Erik-Jan and Kamsteeg, Christoph and
                      Lohmann, Katja and Macaya, Alfons and Marcé-Grau, Anna and
                      Maver, Ales and Molnar, Judit and Münchau, Alexander and
                      Peterlin, Borut and Riess, Olaf and Schöls, Ludger and
                      Schüle-Freyer, Rebecca and Stevanin, Giovanni and Synofzik,
                      Matthis and Timmerman, Vincent and van de Warrenburg, Bart
                      and van Os, Nienke and Wayand, Melanie and Wilke, Carlo and
                      Haack, Tobias B and Graessner, Holm and Zurek, Birte and
                      Ellwanger, Kornelia and Ossowski, Stephan and Demidov,
                      German and Sturm, Marc and Schulze-Hentrich, Julia M and
                      Schüle-Freyer, Rebecca and Kessler, Christoph and Wayand,
                      Melanie and Schöls, Ludger and Hengel, Holger and Heutink,
                      Peter and Brunner, Han and Scheffer, Hans and Hoogerbrugge,
                      Nicoline and 't Hoen, Peter A C and Steyaert, Wouter and
                      Sablauskas, Karolis and Kamsteeg, Erik-Jan and van de
                      Warrenburg, Bart and Te Paske, Iris and Janssen, Erik and
                      Steehouwer, Marloes and Yaldiz, Burcu and Brookes, Anthony J
                      and Veal, Colin and Gibson, Spencer and Wadsley, Marc and
                      Mehtarizadeh, Mehdi and Riaz, Umar and Warren, Greg and
                      Dizjikan, Farid Yavari and Shorter, Thomas and Straub,
                      Volker and Bettolo, Chiara Marini and Specht, Sabine and
                      Clayton-Smith, Jill and Banka, Siddharth and Alexander,
                      Elizabeth and Jackson, Adam and Faivre, Laurence and
                      Thauvin, Christel and Duffourd, Yannis and Tisserant, Emilie
                      and Bruel, Ange-Line and Peyron, Christine and Pélissier,
                      Aurore and Beltran, Sergi and Gut, Ivo Glynne and Laurie,
                      Steven and Piscia, Davide and Matalonga, Leslie and
                      Papakonstantinou, Anastasios and Bullich, Gemma and Corvo,
                      Alberto and Garcia, Carles and Fernandez-Callejo, Marcos and
                      Hernández, Carles and Picó, Daniel and Paramonov, Ida and
                      Lochmüller, Hanns and Gumus, Gulcin and Bros-Facer,
                      Virginie and Rath, Ana and Hanauer, Marc and Olry, Annie and
                      Lagorce, David and Havrylenko, Svitlana and Izem, Katia and
                      Rigour, Fanny and Dürr, Alexandra and Davoine,
                      Claire-Sophie and Guillot-Noel, Léna and Heinzmann, Anna
                      and Coarelli, Giulia and Bonne, Gisèle and Evangelista,
                      Teresinha and Allamand, Valérie and Nelson, Isabelle and
                      Yaou, Rabah Ben and Metay, Corinne and Eymard, Bruno and
                      Cohen, Enzo and Atalaia, Antonio and Stojkovic, Tanya and
                      Macek, Milan and Turnovec, Marek and Thomasová, Dana and
                      Kremliková, Radka Pourová and Franková, Vera and
                      Havlovicová, Markéta and Kremlik, Vlastimil and Parkinson,
                      Helen and Keane, Thomas and Spalding, Dylan and Senf,
                      Alexander and Danis, Daniel and Robert, Glenn and Costa,
                      Alessia and Patch, Christine and Hanna, Mike and Houlden,
                      Henry and Reilly, Mary and Vandrovcova, Jana and Muntoni,
                      Francesco and Sarkozy, Anna and Timmerman, Vincent and
                      Baets, Jonathan and Van de Vondel, Liedewei and Beijer,
                      Danique and de Jonghe, Peter and Banfi, Sandro and Torella,
                      Annalaura and Ferlini, Alessandra and Selvatici, Rita and
                      Rossi, Rachele and Neri, Marcella and Aretz, Stefan and
                      Spier, Isabel and Peters, Sophia and Oliveira, Carla and
                      Pelaez, Jose Garcia and Matos, Ana Rita and José, Celina
                      São and Ferreira, Marta and Gullo, Irene and Fernandes,
                      Susana and Garrido, Luzia and Ferreira, Pedro and Carneiro,
                      Fátima and Swertz, Morris A and Johansson, Lennart and van
                      der Vries, Gerben and Neerincx, Pieter B and Roelofs-Prins,
                      Dieuwke and Köhler, Sebastian and Metcalfe, Alison and
                      Rooryck, Caroline and Trimouille, Aurelien and Castello,
                      Raffaele and Morleo, Manuela and Varavallo, Alessandra and
                      De la Paz, Manuel Posada and Sánchez, Eva Bermejo and
                      Martín, Estrella López and Delgado, Beatriz Martínez and
                      de la Rosa, F Javier Alonso García and Radio, Francesca
                      Clementina and Tartaglia, Marco and Renieri, Alessandra and
                      Benetti, Elisa and Balicza, Peter and Molnar, Maria Judit
                      and Maver, Ales and Peterlin, Borut and Münchau, Alexander
                      and Lohmann, Katja and Herzog, Rebecca and Pauly, Martje and
                      Macaya, Alfons and Marcé-Grau, Anna and Osorio, Andres
                      Nascimiento and de Benito, Daniel Natera and Lochmüller,
                      Hanns and Thompson, Rachel and Polavarapu, Kiran and Beeson,
                      David and Cossins, Judith and Cruz, Pedro M Rodriguez and
                      Hackman, Peter and Johari, Mridul and Savarese, Marco and
                      Udd, Bjarne and Horvath, Rita and Capella, Gabriel and
                      Valle, Laura and Holinski-Feder, Elke and Laner, Andreas and
                      Steinke-Lange, Verena and Schröck, Evelin and Rump,
                      Andreas},
      collaboration = {group, Solve-RD SNV-indel working and DITF-GENTURIS,
                      Solve-RD and DITF-ITHACA, Solve-RD and DITF-euroNMD,
                      Solve-RD and DITF-RND, Solve-RD and Consortia, Solve-RD},
      title        = {{S}olving patients with rare diseases through programmatic
                      reanalysis of genome-phenome data.},
      journal      = {European journal of human genetics},
      volume       = {29},
      number       = {9},
      issn         = {1476-5438},
      address      = {Basingstoke},
      publisher    = {Stockton Press},
      reportid     = {DZNE-2021-00717},
      pages        = {1337-1347},
      year         = {2021},
      abstract     = {Reanalysis of inconclusive exome/genome sequencing data
                      increases the diagnosis yield of patients with rare
                      diseases. However, the cost and efforts required for
                      reanalysis prevent its routine implementation in research
                      and clinical environments. The Solve-RD project aims to
                      reveal the molecular causes underlying undiagnosed rare
                      diseases. One of the goals is to implement innovative
                      approaches to reanalyse the exomes and genomes from
                      thousands of well-studied undiagnosed cases. The raw genomic
                      data is submitted to Solve-RD through the RD-Connect
                      Genome-Phenome Analysis Platform (GPAP) together with
                      standardised phenotypic and pedigree data. We have developed
                      a programmatic workflow to reanalyse genome-phenome data. It
                      uses the RD-Connect GPAP's Application Programming Interface
                      (API) and relies on the big-data technologies upon which the
                      system is built. We have applied the workflow to prioritise
                      rare known pathogenic variants from 4411 undiagnosed cases.
                      The queries returned an average of 1.45 variants per case,
                      which first were evaluated in bulk by a panel of disease
                      experts and afterwards specifically by the submitter of each
                      case. A total of 120 index cases $(21.2\%$ of prioritised
                      cases, $2.7\%$ of all exome/genome-negative samples) have
                      already been solved, with others being under investigation.
                      The implementation of solutions as the one described here
                      provide the technical framework to enable periodic
                      case-level data re-evaluation in clinical settings, as
                      recommended by the American College of Medical Genetics.},
      keywords     = {Genetic Testing: methods / Genetic Testing: standards /
                      Genomics: methods / Genomics: standards / Humans / Pedigree
                      / Rare Diseases: diagnosis / Rare Diseases: genetics /
                      Sensitivity and Specificity / Software},
      cin          = {AG Gasser 1 / AG Maetzler},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)5000024},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC8440686},
      pubmed       = {pmid:34075210},
      doi          = {10.1038/s41431-021-00852-7},
      url          = {https://pub.dzne.de/record/155538},
}