{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T02:53:32Z","timestamp":1792896812914,"version":"4.5.0"},"reference-count":71,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T00:00:00Z","timestamp":1737072000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T00:00:00Z","timestamp":1737072000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Med"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1038\/s41591-024-03420-w","type":"journal-article","created":{"date-parts":[[2025,1,17]],"date-time":"2025-01-17T10:04:33Z","timestamp":1737108273000},"page":"478-489","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":62,"title":["Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses"],"prefix":"10.1038","volume":"31","author":[{"given":"Steven","family":"Laurie","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter","family":"Steyaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke","family":"de Boer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8879-6001","authenticated-orcid":false,"given":"Kiran","family":"Polavarapu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nika","family":"Schuermans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6850-9290","authenticated-orcid":false,"given":"Anna K.","family":"Sommer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"German","family":"Demidov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4845-5795","authenticated-orcid":false,"given":"Kornelia","family":"Ellwanger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ida","family":"Paramonov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Coline","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Aretz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Baets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0819-604X","authenticated-orcid":false,"given":"Elisa","family":"Benetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0737-4422","authenticated-orcid":false,"given":"Gemma","family":"Bullich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick F.","family":"Chinnery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enzo","family":"Cohen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0900-3411","authenticated-orcid":false,"given":"Daniel","family":"Danis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7753-8226","authenticated-orcid":false,"given":"Jean-Madeleine","family":"de Sainte Agathe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8986-8222","authenticated-orcid":false,"given":"Anne-Sophie","family":"Denomm\u00e9-Pichon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2941-7988","authenticated-orcid":false,"given":"Jordi","family":"Diaz-Manera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4900-9877","authenticated-orcid":false,"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcos","family":"Fernandez-Callejo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2949-3921","authenticated-orcid":false,"given":"Mallory","family":"Freeberg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Garcia-Pelaez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0287-3361","authenticated-orcid":false,"given":"Lena","family":"Guillot-Noel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6033-4836","authenticated-orcid":false,"given":"Tobias B.","family":"Haack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mike","family":"Hanna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9773-2667","authenticated-orcid":false,"given":"Holger","family":"Hengel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-170X","authenticated-orcid":false,"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2866-7777","authenticated-orcid":false,"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Jackson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4914-3737","authenticated-orcid":false,"given":"Lennart","family":"Johansson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mridul","family":"Johari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erik-Jan","family":"Kamsteeg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Kellner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tjitske","family":"Kleefstra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Lacombe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2324-8001","authenticated-orcid":false,"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3212-1424","authenticated-orcid":false,"given":"Estrella","family":"L\u00f3pez-Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alfons","family":"Macaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5762-4023","authenticated-orcid":false,"given":"Anna","family":"Marc\u00e9-Grau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ale\u0161","family":"Maver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heba","family":"Morsy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9102-5232","authenticated-orcid":false,"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Musacchia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabelle","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Nigro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0112-5767","authenticated-orcid":false,"given":"Catarina","family":"Olimpio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8340-2264","authenticated-orcid":false,"given":"Carla","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaroslava","family":"Paulasov\u00e1 Schwabov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7794-0282","authenticated-orcid":false,"given":"Martje G.","family":"Pauly","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Borut","family":"Peterlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophia","family":"Peters","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9418-125X","authenticated-orcid":false,"given":"Giulio","family":"Piluso","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Piscia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Posada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Selina","family":"Reich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0846-9220","authenticated-orcid":false,"given":"Alessandra","family":"Renieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lukas","family":"Ryba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karolis","family":"\u0160ablauskas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Savarese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leon","family":"Sch\u00fctz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Verena","family":"Steinke-Lange","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Stevanin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9046-3540","authenticated-orcid":false,"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6552-8362","authenticated-orcid":false,"given":"Marc","family":"Sturm","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morris A.","family":"Swertz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7736-9672","authenticated-orcid":false,"given":"Marco","family":"Tartaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris B. A. W.","family":"te Paske","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalaura","family":"Torella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Trainor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bjarne","family":"Udd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liedewei","family":"Van de Vondel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"van de Warrenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0658-4399","authenticated-orcid":false,"given":"Jeroen","family":"van Reeuwijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Vandrovcova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Vitobello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Vos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Em\u00edlie","family":"Vyhn\u00e1lkov\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robin","family":"Wijngaard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Wilke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7824-5073","authenticated-orcid":false,"given":"Doreen","family":"William","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jishu","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burcu","family":"Yaldiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Zalatnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Birte","family":"Zurek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Solve-RD DITF-GENTURIS","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richarda M.","family":"de Voer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iris B. A. W.","family":"te Paske","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Solve-RD DITF-ITHACA","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elke","family":"de Boer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Madeleine","family":"de Sainte Agathe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Solve-RD DITF-EURO-NMD","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liedewei","family":"Van de Vondel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Solve-RD DITF-RND","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart","family":"van de Warrenburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Solve-RD consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisenka E. L. M.","family":"Vissers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8686-0017","authenticated-orcid":false,"given":"Anthony J.","family":"Brookes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1329-9131","authenticated-orcid":false,"given":"Teresinha","family":"Evangelista","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1693-9699","authenticated-orcid":false,"given":"Christian","family":"Gilissen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holm","family":"Graessner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicoline","family":"Hoogerbrugge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7416-9568","authenticated-orcid":false,"given":"Stephan","family":"Ossowski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olaf","family":"Riess","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca","family":"Sch\u00fcle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2280-7273","authenticated-orcid":false,"given":"Matthis","family":"Synofzik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4819-0264","authenticated-orcid":false,"given":"Alain","family":"Verloes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leslie","family":"Matalonga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Han G.","family":"Brunner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5121-1460","authenticated-orcid":false,"given":"Katja","family":"Lohmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richarda M.","family":"de Voer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"T\u00f6pf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisenka E.L.M.","family":"Vissers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2810-3445","authenticated-orcid":false,"given":"Sergi","family":"Beltran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8072-4476","authenticated-orcid":false,"given":"Alexander","family":"Hoischen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,1,17]]},"reference":[{"key":"3420_CR1","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/s41431-019-0508-0","volume":"28","author":"S Nguengang Wakap","year":"2020","unstructured":"Nguengang Wakap, S. et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur. J. Hum. Genet. 28, 165\u2013173 (2020).","journal-title":"Eur. J. Hum. Genet."},{"key":"3420_CR2","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/s41586-020-2434-2","volume":"583","author":"E Turro","year":"2020","unstructured":"Turro, E. et al. Whole-genome sequencing of patients with rare diseases in a national health system. Nature 583, 96\u2013102 (2020).","journal-title":"Nature"},{"key":"3420_CR3","doi-asserted-by":"crossref","first-page":"1868","DOI":"10.1056\/NEJMoa2035790","volume":"385","author":"D Smedley","year":"2021","unstructured":"Smedley, D. et al. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care \u2013 Preliminary Report. N. Engl. J. Med. 385, 1868\u20131880 (2021).","journal-title":"N. Engl. J. Med."},{"key":"3420_CR4","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1056\/NEJMoa2209046","volume":"388","author":"CF Wright","year":"2023","unstructured":"Wright, C. F. et al. Genomic diagnosis of rare pediatric disease in the United Kingdom and Ireland. N. Engl. J. Med. 388, 1559\u20131571 (2023).","journal-title":"N. Engl. J. Med."},{"key":"3420_CR5","doi-asserted-by":"crossref","first-page":"1618","DOI":"10.1016\/j.gim.2022.04.021","volume":"24","author":"P Dai","year":"2022","unstructured":"Dai, P. et al. Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: a systematic review and meta-analysis. Genet. Med. 24, 1618\u20131629 (2022).","journal-title":"Genet. Med."},{"key":"3420_CR6","doi-asserted-by":"crossref","first-page":"1746","DOI":"10.3390\/ijerph15081746","volume":"15","author":"E L\u00f3pez-Mart\u00edn","year":"2018","unstructured":"L\u00f3pez-Mart\u00edn, E., Mart\u00ednez-Delgado, B., Bermejo-S\u00e1nchez, E. & Alonso, J. SpainUDP: the Spanish Undiagnosed Rare Diseases Program. Int. J. Environ. Res. Public Health 15, 1746 (2018).","journal-title":"Int. J. Environ. Res. Public Health"},{"key":"3420_CR7","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1038\/s41431-021-00859-0","volume":"29","author":"B Zurek","year":"2021","unstructured":"Zurek, B. et al. Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases. Eur. J. Hum. Genet. 29, 1325\u20131331 (2021).","journal-title":"Eur. J. Hum. Genet."},{"key":"3420_CR8","first-page":"717","volume":"43","author":"S Laurie","year":"2022","unstructured":"Laurie, S. et al. The RD-Connect Genome-Phenome Analysis Platform: accelerating diagnosis, research, and gene discovery for rare diseases. Hum. Mutat. 43, 717\u2013733 (2022).","journal-title":"Hum. Mutat."},{"key":"3420_CR9","doi-asserted-by":"crossref","first-page":"D980","DOI":"10.1093\/nar\/gkab1059","volume":"50","author":"MA Freeberg","year":"2022","unstructured":"Freeberg, M. A. et al. The European Genome-phenome Archive in 2021. Nucleic Acids Res. 50, D980\u2013D987 (2022).","journal-title":"Nucleic Acids Res."},{"key":"3420_CR10","doi-asserted-by":"crossref","first-page":"D1207","DOI":"10.1093\/nar\/gkaa1043","volume":"49","author":"S K\u00f6hler","year":"2021","unstructured":"K\u00f6hler, S. et al. The human phenotype ontology in 2021. Nucleic Acids Res. 49, D1207\u2013D1217 (2021).","journal-title":"Nucleic Acids Res."},{"key":"3420_CR11","doi-asserted-by":"crossref","first-page":"1319","DOI":"10.1038\/s41431-021-00924-8","volume":"29","author":"H Graessner","year":"2021","unstructured":"Graessner, H., Zurek, B., Hoischen, A. & Beltran, S. Solving the unsolved rare diseases in Europe. Eur. J. Hum. Genet 29, 1319\u20131320 (2021).","journal-title":"Eur. J. Hum. Genet"},{"key":"3420_CR12","doi-asserted-by":"crossref","first-page":"100018","DOI":"10.1016\/j.gim.2023.100018","volume":"25","author":"AS Denomm\u00e9-Pichon","year":"2023","unstructured":"Denomm\u00e9-Pichon, A. S. et al. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Genet. Med. 25, 100018 (2023).","journal-title":"Genet. Med."},{"key":"3420_CR13","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1038\/s41431-021-00852-7","volume":"29","author":"L Matalonga","year":"2021","unstructured":"Matalonga, L. et al. Solving patients with rare diseases through programmatic reanalysis of genome-phenome data. Eur. J. Hum. Genet. 29, 1337\u20131347 (2021).","journal-title":"Eur. J. Hum. Genet."},{"key":"3420_CR14","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1038\/s41587-022-01357-4","volume":"40","author":"JOB Jacobsen","year":"2022","unstructured":"Jacobsen, J. O. B. et al. The GA4GH Phenopacket schema defines a computable representation of clinical data. Nat. Biotechnol. 40, 817\u2013820 (2022).","journal-title":"Nat. Biotechnol."},{"key":"3420_CR15","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1038\/s41431-023-01486-7","volume":"32","author":"D Lagorce","year":"2024","unstructured":"Lagorce, D. et al. Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report. Eur. J. Hum. Genet. 32, 182\u2013189 (2024).","journal-title":"Eur. J. Hum. Genet."},{"key":"3420_CR16","doi-asserted-by":"crossref","first-page":"D835","DOI":"10.1093\/nar\/gkz972","volume":"48","author":"MJ Landrum","year":"2020","unstructured":"Landrum, M. J. et al. ClinVar: Improvements to accessing data. Nucleic Acids Res. 48, D835\u2013D844 (2020).","journal-title":"Nucleic Acids Res."},{"key":"3420_CR17","doi-asserted-by":"crossref","first-page":"1332","DOI":"10.1038\/s41431-021-00901-1","volume":"29","author":"R Sch\u00fcle","year":"2021","unstructured":"Sch\u00fcle, R. et al. Solving unsolved rare neurological diseases\u2014a Solve-RD viewpoint. Eur. J. Hum. Genet. 29, 1332\u20131336 (2021).","journal-title":"Eur. J. Hum. Genet."},{"key":"3420_CR18","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1038\/s41431-021-00900-2","volume":"29","author":"E de Boer","year":"2021","unstructured":"de Boer, E. et al. A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. Eur. J. Hum. Genet. 29, 1359\u20131368 (2021).","journal-title":"Eur. J. Hum. Genet."},{"key":"3420_CR19","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1038\/s41431-021-00851-8","volume":"29","author":"A T\u00f6pf","year":"2021","unstructured":"T\u00f6pf, A. et al. Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1). Eur. J. Hum. Genet. 29, 1348\u20131353 (2021).","journal-title":"Eur. J. Hum. Genet."},{"key":"3420_CR20","doi-asserted-by":"crossref","first-page":"1354","DOI":"10.1038\/s41431-021-00853-6","volume":"29","author":"IBAW te Paske","year":"2021","unstructured":"te Paske, I. B. A. W. et al. A mosaic PIK3CA variant in a young adult with diffuse gastric cancer: case report. Eur. J. Hum. Genet. 29, 1354\u20131358 (2021).","journal-title":"Eur. J. Hum. Genet."},{"key":"3420_CR21","doi-asserted-by":"crossref","first-page":"1874","DOI":"10.3390\/ijms24031874","volume":"24","author":"MG Pauly","year":"2023","unstructured":"Pauly, M. G. et al. Not to miss: intronic variants, treatment, and review of the phenotypic spectrum in VPS13D-related disorder. Int. J. Mol. Sci. 24, 1874 (2023).","journal-title":"Int. J. Mol. Sci."},{"key":"3420_CR22","doi-asserted-by":"crossref","first-page":"822","DOI":"10.3390\/genes14040822","volume":"14","author":"MG Pauly","year":"2023","unstructured":"Pauly, M. G. et al. The expanding phenotypical spectrum of WARS2-related disorder: four novel cases with a common recurrent variant. Genes (Basel) 14, 822 (2023).","journal-title":"Genes (Basel)"},{"key":"3420_CR23","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1038\/s41586-020-2832-5","volume":"586","author":"J Kaplanis","year":"2020","unstructured":"Kaplanis, J. et al. Evidence for 28 genetic disorders discovered by combining healthcare and research data. Nature 586, 757\u2013762 (2020).","journal-title":"Nature"},{"key":"3420_CR24","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s00401-022-02510-8","volume":"145","author":"CC Weihl","year":"2023","unstructured":"Weihl, C. C. et al. Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure. Acta Neuropathol. 145, 127\u2013143 (2023).","journal-title":"Acta Neuropathol."},{"key":"3420_CR25","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/ajmg.a.62494","volume":"188","author":"A Gangfu\u00df","year":"2022","unstructured":"Gangfu\u00df, A. et al. A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. Am. J. Med. Genet. A 188, 283\u2013291 (2022).","journal-title":"Am. J. Med. Genet. A"},{"key":"3420_CR26","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/s41436-018-0022-8","volume":"21","author":"CR Ferreira","year":"2019","unstructured":"Ferreira, C. R., van Karnebeek, C. D. M., Vockley, J. & Blau, N. A proposed nosology of inborn errors of metabolism. Genet. Med. 21, 102\u2013106 (2019).","journal-title":"Genet. Med."},{"key":"3420_CR27","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-020-01493-7","volume":"15","author":"A Atalaia","year":"2020","unstructured":"Atalaia, A. et al. A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome. Orphanet J. Rare Dis. 15, 206 (2020).","journal-title":"Orphanet J. Rare Dis."},{"key":"3420_CR28","doi-asserted-by":"crossref","first-page":"2235","DOI":"10.1056\/NEJMsr1406261","volume":"372","author":"HL Rehm","year":"2015","unstructured":"Rehm, H. L. et al. ClinGen\u2013the Clinical Genome Resource. N. Engl. J. Med. 372, 2235\u20132242 (2015).","journal-title":"N. Engl. J. Med."},{"key":"3420_CR29","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","volume":"176","author":"K Jaganathan","year":"2019","unstructured":"Jaganathan, K. et al. Predicting splicing from primary sequence with deep learning. Cell 176, 535\u2013548 (2019).","journal-title":"Cell"},{"key":"3420_CR30","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1038\/gim.2017.246","volume":"20","author":"CF Wright","year":"2018","unstructured":"Wright, C. F. et al. Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders. Genet. Med. 20, 1216\u20131223 (2018).","journal-title":"Genet. Med."},{"key":"3420_CR31","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.jmoldx.2018.07.008","volume":"21","author":"SW Baker","year":"2019","unstructured":"Baker, S. W. et al. Automated clinical exome reanalysis reveals novel diagnoses. J. Mol. Diagn. 21, 38\u201348 (2019).","journal-title":"J. Mol. Diagn."},{"key":"3420_CR32","doi-asserted-by":"crossref","first-page":"2478","DOI":"10.1056\/NEJMc1812033","volume":"380","author":"P Liu","year":"2019","unstructured":"Liu, P. et al. Reanalysis of clinical exome sequencing data. N. Engl. J. Med. 380, 2478\u20132480 (2019).","journal-title":"N. Engl. J. Med."},{"key":"3420_CR33","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.jmoldx.2022.02.003","volume":"24","author":"G Bullich","year":"2022","unstructured":"Bullich, G. et al. Systematic collaborative reanalysis of genomic data improves diagnostic yield in neurologic rare diseases. J. Mol. Diagn. 24, 529\u2013542 (2022).","journal-title":"J. Mol. Diagn."},{"key":"3420_CR34","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1056\/NEJMoa1206524","volume":"367","author":"J de Ligt","year":"2012","unstructured":"de Ligt, J. et al. Diagnostic exome sequencing in persons with severe intellectual disability. N. Engl. J. Med. 367, 1921\u20131929 (2012).","journal-title":"N. Engl. J. Med."},{"key":"3420_CR35","doi-asserted-by":"crossref","first-page":"1674","DOI":"10.1016\/S0140-6736(12)61480-9","volume":"380","author":"A Rauch","year":"2012","unstructured":"Rauch, A. et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet 380, 1674\u20131682 (2012).","journal-title":"Lancet"},{"key":"3420_CR36","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1038\/s41525-024-00436-6","volume":"9","author":"G Demidov","year":"2024","unstructured":"Demidov, G. et al. Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses. NPJ Genom. Med. 9, 49 (2024).","journal-title":"NPJ Genom. Med."},{"key":"3420_CR37","doi-asserted-by":"crossref","first-page":"998","DOI":"10.1038\/s41431-024-01637-4","volume":"32","author":"G Demidov","year":"2024","unstructured":"Demidov, G. et al. Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes. Eur. J. Hum. Genet. 32, 998\u20131004 (2024).","journal-title":"Eur. J. Hum. Genet."},{"key":"3420_CR38","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1038\/s41591-024-03085-5","volume":"30","author":"D Greene","year":"2024","unstructured":"Greene, D. et al. Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nat. Med. 30, 2165\u20132169 (2024).","journal-title":"Nat. Med."},{"key":"3420_CR39","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1038\/s41586-024-07773-7","volume":"632","author":"Y Chen","year":"2024","unstructured":"Chen, Y. et al. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature 632, 832\u2013840 (2024).","journal-title":"Nature"},{"key":"3420_CR40","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1038\/s41684-024-01395-2","volume":"53","author":"K Ellwanger","year":"2024","unstructured":"Ellwanger, K. et al. Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe). Lab. Anim. 53, 161\u2013165 (2024).","journal-title":"Lab. Anim."},{"key":"3420_CR41","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1038\/s41591-021-01657-3","volume":"28","author":"HL Rehm","year":"2022","unstructured":"Rehm, H. L. Time to make rare disease diagnosis accessible to all. Nat. Med. 28, 241\u2013242 (2022).","journal-title":"Nat. Med."},{"key":"3420_CR42","first-page":"659","volume":"43","author":"KM Boycott","year":"2022","unstructured":"Boycott, K. M., Azzariti, D. R., Hamosh, A. & Rehm, H. L. Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking. Hum. Mutat. 43, 659\u2013667 (2022).","journal-title":"Hum. Mutat."},{"key":"3420_CR43","doi-asserted-by":"crossref","first-page":"eaal5209","DOI":"10.1126\/scitranslmed.aal5209","volume":"9","author":"BB Cummings","year":"2017","unstructured":"Cummings, B. B. et al. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci. Transl. Med. 9, eaal5209 (2017).","journal-title":"Sci. Transl. Med."},{"key":"3420_CR44","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1002\/jimd.12507","volume":"45","author":"SB Wortmann","year":"2022","unstructured":"Wortmann, S. B. et al. How to proceed after \u2018negative\u2019 exome: a review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques. J. Inherit. Metab. Dis. 45, 663\u2013681 (2022).","journal-title":"J. Inherit. Metab. Dis."},{"key":"3420_CR45","doi-asserted-by":"crossref","DOI":"10.1186\/s13073-022-01019-9","volume":"14","author":"VA Y\u00e9pez","year":"2022","unstructured":"Y\u00e9pez, V. A. et al. Clinical implementation of RNA sequencing for Mendelian disease diagnostics. Genome Med. 14, 38 (2022).","journal-title":"Genome Med."},{"key":"3420_CR46","doi-asserted-by":"crossref","first-page":"426","DOI":"10.3389\/fgene.2019.00426","volume":"10","author":"T Mantere","year":"2019","unstructured":"Mantere, T., Kersten, S. & Hoischen, A. Long-read sequencing emerging in medical genetics. Front. Genet. 10, 426 (2019).","journal-title":"Front. Genet."},{"key":"3420_CR47","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1038\/s41588-021-00865-4","volume":"53","author":"D Beyter","year":"2021","unstructured":"Beyter, D. et al. Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits. Nat. Genet. 53, 779\u2013786 (2021).","journal-title":"Nat. Genet."},{"key":"3420_CR48","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1038\/gim.2017.86","volume":"20","author":"JD Merker","year":"2018","unstructured":"Merker, J. D. et al. Long-read genome sequencing identifies causal structural variation in a Mendelian disease. Genet. Med. 20, 159\u2013163 (2018).","journal-title":"Genet. Med."},{"key":"3420_CR49","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1002\/path.5755","volume":"255","author":"M Sabatella","year":"2021","unstructured":"Sabatella, M. et al. Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors. J. Pathol. 255, 202\u2013211 (2021).","journal-title":"J. Pathol."},{"key":"3420_CR50","doi-asserted-by":"crossref","first-page":"1336","DOI":"10.1016\/j.gim.2022.02.007","volume":"24","author":"ASA Cohen","year":"2022","unstructured":"Cohen, A. S. A. et al. Genomic answers for children: dynamic analyses of >1000 pediatric rare disease genomes. Genet. Med. 24, 1336\u20131348 (2022).","journal-title":"Genet. Med."},{"key":"3420_CR51","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1053\/j.gastro.2022.08.041","volume":"163","author":"IBAW Te Paske","year":"2022","unstructured":"Te Paske, I. B. A. W. et al. Noncoding aberrations in mismatch repair genes underlie a substantial part of the missing heritability in Lynch syndrome. Gastroenterology 163, 1691\u20131694 (2022).","journal-title":"Gastroenterology"},{"key":"3420_CR52","doi-asserted-by":"crossref","first-page":"eadg7492","DOI":"10.1126\/science.adg7492","volume":"381","author":"J Cheng","year":"2023","unstructured":"Cheng, J. et al. Accurate proteome-wide missense variant effect prediction with AlphaMissense. Science 381, eadg7492 (2023).","journal-title":"Science"},{"key":"3420_CR53","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/nature13394","volume":"511","author":"C Gilissen","year":"2014","unstructured":"Gilissen, C. et al. Genome sequencing identifies major causes of severe intellectual disability. Nature 511, 344\u2013347 (2014).","journal-title":"Nature"},{"key":"3420_CR54","doi-asserted-by":"crossref","first-page":"1478","DOI":"10.1038\/s41436-020-0840-3","volume":"22","author":"A T\u00f6pf","year":"2020","unstructured":"T\u00f6pf, A. et al. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. Genet. Med. 22, 1478\u20131488 (2020).","journal-title":"Genet. Med."},{"key":"3420_CR55","doi-asserted-by":"crossref","first-page":"1507","DOI":"10.1093\/brain\/awab395","volume":"145","author":"S Hiz Kurul","year":"2022","unstructured":"Hiz Kurul, S. et al. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. Brain 145, 1507\u20131518 (2022).","journal-title":"Brain"},{"key":"3420_CR56","doi-asserted-by":"crossref","first-page":"1560","DOI":"10.1038\/s41588-019-0528-2","volume":"51","author":"AR Martin","year":"2019","unstructured":"Martin, A. R. et al. PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat. Genet. 51, 1560\u20131565 (2019).","journal-title":"Nat. Genet."},{"key":"3420_CR57","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.nmd.2022.12.002","volume":"33","author":"L Benarroch","year":"2023","unstructured":"Benarroch, L., Bonne, G., Rivier, F. & Hamroun, D. The 2023 version of the gene table of neuromuscular disorders (nuclear genome). Neuromuscul. Disord. 33, 76\u2013117 (2023).","journal-title":"Neuromuscul. Disord."},{"key":"3420_CR58","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/gim.2017.108","volume":"20","author":"JJY Lee","year":"2018","unstructured":"Lee, J. J. Y., Wasserman, W. W., Hoffmann, G. F., Van Karnebeek, C. D. M. & Blau, N. Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism. Genet. Med. 20, 151\u2013158 (2018).","journal-title":"Genet. Med."},{"key":"3420_CR59","doi-asserted-by":"crossref","first-page":"337","DOI":"10.3233\/JND-219003","volume":"8","author":"G Bonne","year":"2021","unstructured":"Bonne, G. The Treatabolome, an emerging concept. J. Neuromuscul. Dis. 8, 337\u2013339 (2021).","journal-title":"J. Neuromuscul. Dis."},{"key":"3420_CR60","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1002\/humu.23114","volume":"37","author":"S Laurie","year":"2016","unstructured":"Laurie, S. et al. From wet-lab to variations: concordance and speed of bioinformatics pipelines for whole genome and whole exome sequencing. Hum. Mutat. 37, 1263\u20131271 (2016).","journal-title":"Hum. Mutat."},{"key":"3420_CR61","doi-asserted-by":"crossref","DOI":"10.1186\/s13059-016-0974-4","volume":"17","author":"W McLaren","year":"2016","unstructured":"McLaren, W. et al. The Ensembl Variant Effect Predictor. Genome Biol. 17, 122 (2016).","journal-title":"Genome Biol."},{"key":"3420_CR62","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","volume":"581","author":"KJ Karczewski","year":"2020","unstructured":"Karczewski, K. J. et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature 581, 434\u2013443 (2020).","journal-title":"Nature"},{"key":"3420_CR63","doi-asserted-by":"crossref","first-page":"1194","DOI":"10.1038\/nn.4352","volume":"19","author":"SH Lelieveld","year":"2016","unstructured":"Lelieveld, S. H. et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability. Nat. Neurosci. 19, 1194\u20131196 (2016).","journal-title":"Nat. Neurosci."},{"key":"3420_CR64","doi-asserted-by":"crossref","DOI":"10.1093\/gigascience\/giae058","volume":"13","author":"LF Johansson","year":"2024","unstructured":"Johansson, L. F. et al. An interconnected data infrastructure to support large-scale rare disease research. Gigascience 13, giae058 (2024).","journal-title":"Gigascience"},{"key":"3420_CR65","doi-asserted-by":"crossref","first-page":"e97","DOI":"10.1093\/nar\/gkac511","volume":"50","author":"G Khazeeva","year":"2022","unstructured":"Khazeeva, G. et al. DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data. Nucleic Acids Res. 50, e97 (2022).","journal-title":"Nucleic Acids Res."},{"key":"3420_CR66","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1016\/j.ajhg.2021.06.014","volume":"108","author":"D Danis","year":"2021","unstructured":"Danis, D. et al. Interpretable prioritization of splice variants in diagnostic next-generation sequencing. Am. J. Hum. Genet. 108, 1564\u20131577 (2021).","journal-title":"Am. J. Hum. Genet."},{"key":"3420_CR67","doi-asserted-by":"publisher","unstructured":"Demidov, G., Sturm, M. & Ossowski, S. ClinCNV: multi-sample germline CNV detection in NGS data. Preprint at bioRxiv https:\/\/doi.org\/10.1101\/2022.06.10.495642 (2022).","DOI":"10.1101\/2022.06.10.495642"},{"key":"3420_CR68","doi-asserted-by":"crossref","first-page":"3572","DOI":"10.1093\/bioinformatics\/bty304","volume":"34","author":"V Geoffroy","year":"2018","unstructured":"Geoffroy, V. et al. AnnotSV: an integrated tool for structural variations annotation. Bioinformatics 34, 3572\u20133574 (2018).","journal-title":"Bioinformatics"},{"key":"3420_CR69","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1038\/s41436-021-01174-1","volume":"23","author":"BPGH van der Sanden","year":"2021","unstructured":"van der Sanden, B. P. G. H. et al. Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield. Genet. Med. 23, 1569\u20131573 (2021).","journal-title":"Genet. Med."},{"key":"3420_CR70","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1101\/gr.225672.117","volume":"27","author":"E Dolzhenko","year":"2017","unstructured":"Dolzhenko, E. et al. Detection of long repeat expansions from PCR-free whole-genome sequence data. Genome Res. 27, 1895\u20131903 (2017).","journal-title":"Genome Res."},{"key":"3420_CR71","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1038\/s41431-023-01478-7","volume":"32","author":"R Wijngaard","year":"2024","unstructured":"Wijngaard, R. et al. Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples. Eur. J. Hum. Genet. 32, 200\u2013208 (2024).","journal-title":"Eur. J. Hum. Genet."}],"updated-by":[{"DOI":"10.1038\/s41591-025-03754-z","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2025,6,19]],"date-time":"2025-06-19T00:00:00Z","timestamp":1750291200000}}],"container-title":["Nature Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41591-024-03420-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41591-024-03420-w","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41591-024-03420-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,2,18]],"date-time":"2025-02-18T23:02:50Z","timestamp":1739919770000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41591-024-03420-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,17]]},"references-count":71,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["3420"],"URL":"https:\/\/doi.org\/10.1038\/s41591-024-03420-w","relation":{},"ISSN":["1078-8956","1546-170X"],"issn-type":[{"value":"1078-8956","type":"print"},{"value":"1546-170X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,17]]},"assertion":[{"value":"1 May 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 November 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 January 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"M. Synofzik has received consultancy honoraria from Janssen, Ionis, Orphazyme, Servier, Reata, GenOrph and AviadoBio, all unrelated to the present manuscript. B.v.d.W. has received consultancy honoraria from, and\/or has served on advisory boards for, Servier, Biohaven Pharmaceuticals, Vico Therapeutics and Biogen, all unrelated to the present manuscript. The other authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}