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@ARTICLE{Laurie:276800,
      author       = {Laurie, Steven and Steyaert, Wouter and de Boer, Elke and
                      Polavarapu, Kiran and Schuermans, Nika and Sommer, Anna K
                      and Demidov, German and Ellwanger, Kornelia and Paramonov,
                      Ida and Thomas, Coline and Aretz, Stefan and Baets, Jonathan
                      and Benetti, Elisa and Bullich, Gemma and Chinnery, Patrick
                      F and Clayton-Smith, Jill and Cohen, Enzo and Danis, Daniel
                      and de Sainte Agathe, Jean-Madeleine and Denommé-Pichon,
                      Anne-Sophie and Diaz-Manera, Jordi and Efthymiou, Stephanie
                      and Faivre, Laurence and Fernandez-Callejo, Marcos and
                      Freeberg, Mallory and Garcia-Pelaez, José and Guillot-Noel,
                      Lena and Haack, Tobias B and Hanna, Mike and Hengel, Holger
                      and Horvath, Rita and Houlden, Henry and Jackson, Adam and
                      Johansson, Lennart and Johari, Mridul and Kamsteeg, Erik-Jan
                      and Kellner, Melanie and Kleefstra, Tjitske and Lacombe,
                      Didier and Lochmüller, Hanns and López-Martín, Estrella
                      and Macaya, Alfons and Marcé-Grau, Anna and Maver, Aleš
                      and Morsy, Heba and Muntoni, Francesco and Musacchia,
                      Francesco and Nelson, Isabelle and Nigro, Vincenzo and
                      Olimpio, Catarina and Oliveira, Carla and Paulasová
                      Schwabová, Jaroslava and Pauly, Martje G and Peterlin,
                      Borut and Peters, Sophia and Pfundt, Rolph and Piluso,
                      Giulio and Piscia, Davide and Posada, Manuel and Reich,
                      Selina and Renieri, Alessandra and Ryba, Lukas and
                      Šablauskas, Karolis and Savarese, Marco and Schöls, Ludger
                      and Schütz, Leon and Steinke-Lange, Verena and Stevanin,
                      Giovanni and Straub, Volker and Sturm, Marc and Swertz,
                      Morris A and Tartaglia, Marco and Te Paske, Iris B A W and
                      Thompson, Rachel and Torella, Annalaura and Trainor,
                      Christina and Udd, Bjarne and Van de Vondel, Liedewei and
                      van de Warrenburg, Bart and van Reeuwijk, Jeroen and
                      Vandrovcova, Jana and Vitobello, Antonio and Vos, Janet and
                      Vyhnálková, Emílie and Wijngaard, Robin and Wilke, Carlo
                      and William, Doreen and Xu, Jishu and Yaldiz, Burcu and
                      Zalatnai, Luca and Zurek, Birte and Brookes, Anthony J and
                      Evangelista, Teresinha and Gilissen, Christian and
                      Graessner, Holm and Hoogerbrugge, Nicoline and Ossowski,
                      Stephan and Riess, Olaf and Schüle, Rebecca and Synofzik,
                      Matthis and Verloes, Alain and Matalonga, Leslie and
                      Brunner, Han G and Lohmann, Katja and de Voer, Richarda M
                      and Töpf, Ana and Vissers, Lisenka E L M and Beltran, Sergi
                      and Hoischen, Alexander},
      collaboration = {DITF-GENTURIS, Solve-RD and DITF-ITHACA, Solve-RD and
                      DITF-EURO-NMD, Solve-RD and DITF-RND, Solve-RD and
                      consortium, Solve-RD},
      othercontributors = {de Voer, Richarda M and Te Paske, Iris B A W and de Boer,
                          Elke and de Sainte Agathe, Jean-Madeleine and Van de Vondel,
                          Liedewei and van de Warrenburg, Bart and Vissers, Lisenka E
                          L M},
      title        = {{G}enomic reanalysis of a pan-{E}uropean rare-disease
                      resource yields new diagnoses.},
      journal      = {Nature medicine},
      volume       = {31},
      number       = {2},
      issn         = {1078-8956},
      address      = {[New York, NY]},
      publisher    = {Springer Nature},
      reportid     = {DZNE-2025-00325},
      pages        = {478 - 489},
      year         = {2025},
      abstract     = {Genetic diagnosis of rare diseases requires accurate
                      identification and interpretation of genomic variants.
                      Clinical and molecular scientists from 37 expert centers
                      across Europe created the Solve-Rare Diseases Consortium
                      (Solve-RD) resource, encompassing clinical, pedigree and
                      genomic rare-disease data $(94.5\%$ exomes, $5.5\%$
                      genomes), and performed systematic reanalysis for 6,447
                      individuals (3,592 male, 2,855 female) with previously
                      undiagnosed rare diseases from 6,004 families. We
                      established a collaborative, two-level expert review
                      infrastructure that allowed a genetic diagnosis in 506
                      $(8.4\%)$ families. Of 552 disease-causing variants
                      identified, 464 $(84.1\%)$ were single-nucleotide variants
                      or short insertions/deletions. These variants were either
                      located in recently published novel disease genes (n = 67),
                      recently reclassified in ClinVar (n = 187) or reclassified
                      by consensus expert decision within Solve-RD (n = 210).
                      Bespoke bioinformatics analyses identified the remaining
                      $15.9\%$ of causative variants (n = 88). Ad hoc expert
                      review, parallel to the systematic reanalysis, diagnosed 249
                      $(4.1\%)$ additional families for an overall diagnostic
                      yield of $12.6\%.$ The infrastructure and collaborative
                      networks set up by Solve-RD can serve as a blueprint for
                      future further scalable international efforts. The resource
                      is open to the global rare-disease community, allowing
                      phenotype, variant and gene queries, as well as genome-wide
                      discoveries.},
      keywords     = {Humans / Rare Diseases: genetics / Rare Diseases: diagnosis
                      / Europe / Male / Genomics: methods / Female / Pedigree /
                      Databases, Genetic / Computational Biology: methods /
                      Genome, Human: genetics / Exome: genetics},
      cin          = {AG Gasser / AG Schöls},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)5000005},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:39825153},
      doi          = {10.1038/s41591-024-03420-w},
      url          = {https://pub.dzne.de/record/276800},
}