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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},
}