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| 001 | 276800 | ||
| 005 | 20250323000846.0 | ||
| 024 | 7 | _ | |a 10.1038/s41591-024-03420-w |2 doi |
| 024 | 7 | _ | |a pmid:39825153 |2 pmid |
| 024 | 7 | _ | |a 1078-8956 |2 ISSN |
| 024 | 7 | _ | |a 1546-170X |2 ISSN |
| 024 | 7 | _ | |a altmetric:173108648 |2 altmetric |
| 037 | _ | _ | |a DZNE-2025-00325 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Laurie, Steven |b 0 |
| 245 | _ | _ | |a Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses. |
| 260 | _ | _ | |a [New York, NY] |c 2025 |b Springer Nature |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1740038493_2406 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a 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. |
| 536 | _ | _ | |a 353 - Clinical and Health Care Research (POF4-353) |0 G:(DE-HGF)POF4-353 |c POF4-353 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Rare Diseases: genetics |2 MeSH |
| 650 | _ | 2 | |a Rare Diseases: diagnosis |2 MeSH |
| 650 | _ | 2 | |a Europe |2 MeSH |
| 650 | _ | 2 | |a Male |2 MeSH |
| 650 | _ | 2 | |a Genomics: methods |2 MeSH |
| 650 | _ | 2 | |a Female |2 MeSH |
| 650 | _ | 2 | |a Pedigree |2 MeSH |
| 650 | _ | 2 | |a Databases, Genetic |2 MeSH |
| 650 | _ | 2 | |a Computational Biology: methods |2 MeSH |
| 650 | _ | 2 | |a Genome, Human: genetics |2 MeSH |
| 650 | _ | 2 | |a Exome: genetics |2 MeSH |
| 700 | 1 | _ | |a Steyaert, Wouter |b 1 |
| 700 | 1 | _ | |a de Boer, Elke |b 2 |
| 700 | 1 | _ | |a Polavarapu, Kiran |0 0000-0002-8879-6001 |b 3 |
| 700 | 1 | _ | |a Schuermans, Nika |b 4 |
| 700 | 1 | _ | |a Sommer, Anna K |0 0000-0001-6850-9290 |b 5 |
| 700 | 1 | _ | |a Demidov, German |b 6 |
| 700 | 1 | _ | |a Ellwanger, Kornelia |0 0000-0003-4845-5795 |b 7 |
| 700 | 1 | _ | |a Paramonov, Ida |b 8 |
| 700 | 1 | _ | |a Thomas, Coline |b 9 |
| 700 | 1 | _ | |a Aretz, Stefan |b 10 |
| 700 | 1 | _ | |a Baets, Jonathan |b 11 |
| 700 | 1 | _ | |a Benetti, Elisa |0 0000-0002-0819-604X |b 12 |
| 700 | 1 | _ | |a Bullich, Gemma |0 0000-0002-0737-4422 |b 13 |
| 700 | 1 | _ | |a Chinnery, Patrick F |b 14 |
| 700 | 1 | _ | |a Clayton-Smith, Jill |b 15 |
| 700 | 1 | _ | |a Cohen, Enzo |b 16 |
| 700 | 1 | _ | |a Danis, Daniel |0 0000-0003-0900-3411 |b 17 |
| 700 | 1 | _ | |a de Sainte Agathe, Jean-Madeleine |0 0000-0002-7753-8226 |b 18 |
| 700 | 1 | _ | |a Denommé-Pichon, Anne-Sophie |0 0000-0002-8986-8222 |b 19 |
| 700 | 1 | _ | |a Diaz-Manera, Jordi |0 0000-0003-2941-7988 |b 20 |
| 700 | 1 | _ | |a Efthymiou, Stephanie |0 0000-0003-4900-9877 |b 21 |
| 700 | 1 | _ | |a Faivre, Laurence |b 22 |
| 700 | 1 | _ | |a Fernandez-Callejo, Marcos |b 23 |
| 700 | 1 | _ | |a Freeberg, Mallory |0 0000-0003-2949-3921 |b 24 |
| 700 | 1 | _ | |a Garcia-Pelaez, José |b 25 |
| 700 | 1 | _ | |a Guillot-Noel, Lena |0 0000-0002-0287-3361 |b 26 |
| 700 | 1 | _ | |a Haack, Tobias B |0 0000-0001-6033-4836 |b 27 |
| 700 | 1 | _ | |a Hanna, Mike |b 28 |
| 700 | 1 | _ | |a Hengel, Holger |0 P:(DE-2719)2811940 |b 29 |
| 700 | 1 | _ | |a Horvath, Rita |0 0000-0002-9841-170X |b 30 |
| 700 | 1 | _ | |a Houlden, Henry |0 0000-0002-2866-7777 |b 31 |
| 700 | 1 | _ | |a Jackson, Adam |b 32 |
| 700 | 1 | _ | |a Johansson, Lennart |0 0000-0002-4914-3737 |b 33 |
| 700 | 1 | _ | |a Johari, Mridul |b 34 |
| 700 | 1 | _ | |a Kamsteeg, Erik-Jan |b 35 |
| 700 | 1 | _ | |a Kellner, Melanie |0 P:(DE-2719)9002384 |b 36 |
| 700 | 1 | _ | |a Kleefstra, Tjitske |b 37 |
| 700 | 1 | _ | |a Lacombe, Didier |b 38 |
| 700 | 1 | _ | |a Lochmüller, Hanns |0 0000-0003-2324-8001 |b 39 |
| 700 | 1 | _ | |a López-Martín, Estrella |0 0000-0003-3212-1424 |b 40 |
| 700 | 1 | _ | |a Macaya, Alfons |b 41 |
| 700 | 1 | _ | |a Marcé-Grau, Anna |0 0000-0001-5762-4023 |b 42 |
| 700 | 1 | _ | |a Maver, Aleš |b 43 |
| 700 | 1 | _ | |a Morsy, Heba |b 44 |
| 700 | 1 | _ | |a Muntoni, Francesco |0 0000-0002-9102-5232 |b 45 |
| 700 | 1 | _ | |a Musacchia, Francesco |b 46 |
| 700 | 1 | _ | |a Nelson, Isabelle |b 47 |
| 700 | 1 | _ | |a Nigro, Vincenzo |b 48 |
| 700 | 1 | _ | |a Olimpio, Catarina |0 0000-0002-0112-5767 |b 49 |
| 700 | 1 | _ | |a Oliveira, Carla |0 0000-0001-8340-2264 |b 50 |
| 700 | 1 | _ | |a Paulasová Schwabová, Jaroslava |b 51 |
| 700 | 1 | _ | |a Pauly, Martje G |0 0000-0002-7794-0282 |b 52 |
| 700 | 1 | _ | |a Peterlin, Borut |b 53 |
| 700 | 1 | _ | |a Peters, Sophia |b 54 |
| 700 | 1 | _ | |a Pfundt, Rolph |b 55 |
| 700 | 1 | _ | |a Piluso, Giulio |0 0000-0001-9418-125X |b 56 |
| 700 | 1 | _ | |a Piscia, Davide |b 57 |
| 700 | 1 | _ | |a Posada, Manuel |b 58 |
| 700 | 1 | _ | |a Reich, Selina |0 P:(DE-2719)2813732 |b 59 |u dzne |
| 700 | 1 | _ | |a Renieri, Alessandra |0 0000-0002-0846-9220 |b 60 |
| 700 | 1 | _ | |a Ryba, Lukas |b 61 |
| 700 | 1 | _ | |a Šablauskas, Karolis |b 62 |
| 700 | 1 | _ | |a Savarese, Marco |b 63 |
| 700 | 1 | _ | |a Schöls, Ludger |0 P:(DE-2719)2810795 |b 64 |u dzne |
| 700 | 1 | _ | |a Schütz, Leon |b 65 |
| 700 | 1 | _ | |a Steinke-Lange, Verena |b 66 |
| 700 | 1 | _ | |a Stevanin, Giovanni |b 67 |
| 700 | 1 | _ | |a Straub, Volker |0 0000-0001-9046-3540 |b 68 |
| 700 | 1 | _ | |a Sturm, Marc |0 0000-0002-6552-8362 |b 69 |
| 700 | 1 | _ | |a Swertz, Morris A |b 70 |
| 700 | 1 | _ | |a Tartaglia, Marco |0 0000-0001-7736-9672 |b 71 |
| 700 | 1 | _ | |a Te Paske, Iris B A W |b 72 |
| 700 | 1 | _ | |a Thompson, Rachel |b 73 |
| 700 | 1 | _ | |a Torella, Annalaura |b 74 |
| 700 | 1 | _ | |a Trainor, Christina |b 75 |
| 700 | 1 | _ | |a Udd, Bjarne |b 76 |
| 700 | 1 | _ | |a Van de Vondel, Liedewei |b 77 |
| 700 | 1 | _ | |a van de Warrenburg, Bart |b 78 |
| 700 | 1 | _ | |a van Reeuwijk, Jeroen |0 0000-0002-0658-4399 |b 79 |
| 700 | 1 | _ | |a Vandrovcova, Jana |b 80 |
| 700 | 1 | _ | |a Vitobello, Antonio |b 81 |
| 700 | 1 | _ | |a Vos, Janet |b 82 |
| 700 | 1 | _ | |a Vyhnálková, Emílie |b 83 |
| 700 | 1 | _ | |a Wijngaard, Robin |b 84 |
| 700 | 1 | _ | |a Wilke, Carlo |0 P:(DE-2719)2814101 |b 85 |u dzne |
| 700 | 1 | _ | |a William, Doreen |0 0000-0001-7824-5073 |b 86 |
| 700 | 1 | _ | |a Xu, Jishu |0 P:(DE-2719)9002275 |b 87 |
| 700 | 1 | _ | |a Yaldiz, Burcu |b 88 |
| 700 | 1 | _ | |a Zalatnai, Luca |b 89 |
| 700 | 1 | _ | |a Zurek, Birte |b 90 |
| 700 | 1 | _ | |a DITF-GENTURIS, Solve-RD |b 91 |e Collaboration Author |
| 700 | 1 | _ | |a DITF-ITHACA, Solve-RD |b 92 |e Collaboration Author |
| 700 | 1 | _ | |a DITF-EURO-NMD, Solve-RD |b 93 |e Collaboration Author |
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| 700 | 1 | _ | |a consortium, Solve-RD |b 95 |e Collaboration Author |
| 700 | 1 | _ | |a Brookes, Anthony J |0 0000-0001-8686-0017 |b 96 |
| 700 | 1 | _ | |a Evangelista, Teresinha |0 0000-0002-1329-9131 |b 97 |
| 700 | 1 | _ | |a Gilissen, Christian |0 0000-0003-1693-9699 |b 98 |
| 700 | 1 | _ | |a Graessner, Holm |b 99 |
| 700 | 1 | _ | |a Hoogerbrugge, Nicoline |b 100 |
| 700 | 1 | _ | |a Ossowski, Stephan |0 0000-0002-7416-9568 |b 101 |
| 700 | 1 | _ | |a Riess, Olaf |b 102 |
| 700 | 1 | _ | |a Schüle, Rebecca |0 P:(DE-2719)2812018 |b 103 |u dzne |
| 700 | 1 | _ | |a Synofzik, Matthis |0 P:(DE-2719)2811275 |b 104 |
| 700 | 1 | _ | |a Verloes, Alain |0 0000-0003-4819-0264 |b 105 |
| 700 | 1 | _ | |a Matalonga, Leslie |b 106 |
| 700 | 1 | _ | |a Brunner, Han G |b 107 |
| 700 | 1 | _ | |a Lohmann, Katja |0 P:(DE-2719)9000191 |b 108 |
| 700 | 1 | _ | |a de Voer, Richarda M |b 109 |
| 700 | 1 | _ | |a Töpf, Ana |b 110 |
| 700 | 1 | _ | |a Vissers, Lisenka E L M |b 111 |
| 700 | 1 | _ | |a Beltran, Sergi |0 0000-0002-2810-3445 |b 112 |
| 700 | 1 | _ | |a Hoischen, Alexander |0 0000-0002-8072-4476 |b 113 |
| 700 | 1 | _ | |a de Voer, Richarda M |b 114 |e Contributor |
| 700 | 1 | _ | |a Te Paske, Iris B A W |b 115 |e Contributor |
| 700 | 1 | _ | |a de Boer, Elke |b 116 |e Contributor |
| 700 | 1 | _ | |a de Sainte Agathe, Jean-Madeleine |b 117 |e Contributor |
| 700 | 1 | _ | |a Van de Vondel, Liedewei |b 118 |e Contributor |
| 700 | 1 | _ | |a van de Warrenburg, Bart |b 119 |e Contributor |
| 700 | 1 | _ | |a Vissers, Lisenka E L M |b 120 |e Contributor |
| 773 | _ | _ | |a 10.1038/s41591-024-03420-w |g Vol. 31, no. 2, p. 478 - 489 |0 PERI:(DE-600)1484517-9 |n 2 |p 478 - 489 |t Nature medicine |v 31 |y 2025 |x 1078-8956 |
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