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000281733 0247_ $$2doi$$a10.1038/s41588-025-02290-3
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000281733 0247_ $$2ISSN$$a1061-4036
000281733 0247_ $$2ISSN$$a1546-1718
000281733 037__ $$aDZNE-2025-01166
000281733 041__ $$aEnglish
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000281733 1001_ $$00000-0001-7916-3643$$aYépez, Vicente A$$b0
000281733 245__ $$aThe Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.
000281733 260__ $$aLondon$$bMacmillan Publishers Limited, part of Springer Nature$$c2025
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000281733 520__ $$aDespite advances in genomic diagnostics, the majority of individuals with rare diseases remain without a confirmed genetic diagnosis. The rapid emergence of advanced omics technologies, such as long-read genome sequencing, optical genome mapping and multiomic profiling, has improved diagnostic yield but also substantially increased analytical and interpretational complexity. Addressing this complexity requires systematic multidisciplinary collaboration, as recently demonstrated by targeted diagnostic workshops. Here, we highlight the experience of the Solve-RD consortium, a pan-European initiative, in implementing four structured workshops, termed 'Solvathons', as a regular and effective component of its operational workflow. We provide actionable insights, best practices and lessons learned for successful data integration, expert training and scalable collaborative diagnostics within large research consortia.
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000281733 650_2 $$2MeSH$$aRare Diseases: diagnosis
000281733 650_2 $$2MeSH$$aRare Diseases: genetics
000281733 650_2 $$2MeSH$$aHumans
000281733 650_2 $$2MeSH$$aEurope
000281733 650_2 $$2MeSH$$aGenomics: methods
000281733 650_2 $$2MeSH$$aGenetic Testing: methods
000281733 7001_ $$00000-0001-9075-4276$$aDemidov, German$$b1
000281733 7001_ $$00000-0003-4845-5795$$aEllwanger, Kornelia$$b2
000281733 7001_ $$00000-0003-3913-5829$$aLaurie, Steven$$b3
000281733 7001_ $$00009-0009-9987-8879$$aLuknárová, Rebeka$$b4
000281733 7001_ $$aJoseph Maran, Midhuna Immaculate$$b5
000281733 7001_ $$00000-0002-1488-9096$$aHentrich, Thomas$$b6
000281733 7001_ $$aSagath, Lydia$$b7
000281733 7001_ $$00000-0003-0546-1351$$avan der Sanden, Bart$$b8
000281733 7001_ $$aAstuti, Galuh$$b9
000281733 7001_ $$00009-0000-8055-5329$$aNeveling, Kornelia$$b10
000281733 7001_ $$aBatlle-Masó, Laura$$b11
000281733 7001_ $$0P:(DE-2719)9002605$$aBeijer, Danique$$b12$$udzne
000281733 7001_ $$00000-0002-0110-152X$$aBrechtmann, Felix$$b13
000281733 7001_ $$00000-0002-8892-1255$$aCaballero-Oteyza, Andrés$$b14
000281733 7001_ $$00000-0002-6094-747X$$aDabad, Marc$$b15
000281733 7001_ $$00000-0002-8986-8222$$aDenommé-Pichon, Anne-Sophie$$b16
000281733 7001_ $$aDoornbos, Cenna$$b17
000281733 7001_ $$00009-0008-9648-5984$$aEddafir, Zakaria$$b18
000281733 7001_ $$aEstévez-Arias, Berta$$b19
000281733 7001_ $$aKilicarslan, Ozge Aksel$$b20
000281733 7001_ $$00009-0001-1483-8328$$aKolen, Ingrid H M$$b21
000281733 7001_ $$00009-0008-9547-1871$$aKraß, Leon$$b22
000281733 7001_ $$aLohmann, Katja$$b23
000281733 7001_ $$00000-0002-1220-6650$$aLondhe, Shubhankar$$b24
000281733 7001_ $$00000-0003-3212-1424$$aLópez-Martín, Estrella$$b25
000281733 7001_ $$00000-0001-7086-0637$$aMaassen, Kars$$b26
000281733 7001_ $$00000-0003-0612-5819$$aMacken, William$$b27
000281733 7001_ $$00000-0001-6834-350X$$aMartínez-Delgado, Beatriz$$b28
000281733 7001_ $$00000-0001-6790-6251$$aMei, Davide$$b29
000281733 7001_ $$00000-0002-1091-205X$$aMertes, Christian$$b30
000281733 7001_ $$aMinardi, Raffaella$$b31
000281733 7001_ $$00000-0002-9047-0959$$aMorsy, Heba$$b32
000281733 7001_ $$aMueller, Juliane S$$b33
000281733 7001_ $$00000-0001-7764-2085$$aNatera-de Benito, Daniel$$b34
000281733 7001_ $$aNelson, Isabelle$$b35
000281733 7001_ $$00000-0003-4864-9346$$aOud, Machteld M$$b36
000281733 7001_ $$aParamonov, Ida$$b37
000281733 7001_ $$00000-0001-5254-2184$$aPicó, Daniel$$b38
000281733 7001_ $$aPiscia, Davide$$b39
000281733 7001_ $$aPolavarapu, Kiran$$b40
000281733 7001_ $$aRaineri, Emanuele$$b41
000281733 7001_ $$aSavarese, Marco$$b42
000281733 7001_ $$aSmal, Noor$$b43
000281733 7001_ $$00009-0000-5177-7803$$aSteehouwer, Marloes$$b44
000281733 7001_ $$aSteyaert, Wouter$$b45
000281733 7001_ $$aSwertz, Morris A$$b46
000281733 7001_ $$aThomsen, Mirja$$b47
000281733 7001_ $$aTöpf, Ana$$b48
000281733 7001_ $$00000-0003-2214-5908$$aVan de Vondel, Liedewei$$b49
000281733 7001_ $$avan der Vries, Gerben$$b50
000281733 7001_ $$00000-0003-3717-8374$$aVitobello, Antonio$$b51
000281733 7001_ $$0P:(DE-2719)2814101$$aWilke, Carlo$$b52$$udzne
000281733 7001_ $$aZurek, Birte$$b53
000281733 7001_ $$aDITF-EPICARE, Solve-RD$$b54$$eCollaboration Author
000281733 7001_ $$aDITF-ITHACA, Solve-RD$$b55$$eCollaboration Author
000281733 7001_ $$aDITF-EURO-NMD, Solve-RD$$b56$$eCollaboration Author
000281733 7001_ $$aDITF-RITA, Solve-RD$$b57$$eCollaboration Author
000281733 7001_ $$aDITF-RND, Solve-RD$$b58$$eCollaboration Author
000281733 7001_ $$aconsortium, Solve-RD$$b59$$eCollaboration Author
000281733 7001_ $$00000-0003-4450-3112$$aT' Hoen, Peter-Bram$$b60
000281733 7001_ $$aMatalonga, Leslie$$b61
000281733 7001_ $$00000-0001-6470-5497$$aVissers, Lisenka E L M$$b62
000281733 7001_ $$00000-0003-1693-9699$$aGilissen, Christian$$b63
000281733 7001_ $$aSchulze-Hentrich, Julia$$b64
000281733 7001_ $$aBeltran, Sergi$$b65
000281733 7001_ $$00000-0003-0361-2873$$aEsteve-Codina, Anna$$b66
000281733 7001_ $$00000-0002-8072-4476$$aHoischen, Alexander$$b67
000281733 7001_ $$00000-0002-8924-8365$$aGagneur, Julien$$b68
000281733 7001_ $$00000-0001-9803-7183$$aGraessner, Holm$$b69
000281733 773__ $$0PERI:(DE-600)1494946-5$$a10.1038/s41588-025-02290-3$$gVol. 57, no. 10, p. 2361 - 2370$$n10$$p2361 - 2370$$tNature genetics$$v57$$x1061-4036$$y2025
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