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000276800 1001_ $$aLaurie, Steven$$b0
000276800 245__ $$aGenomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
000276800 260__ $$a[New York, NY]$$bSpringer Nature$$c2025
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000276800 520__ $$aGenetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.5% genomes), and performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed rare diseases from 6,004 families. We established a collaborative, two-level expert review infrastructure that allowed a genetic diagnosis in 506 (8.4%) families. Of 552 disease-causing variants identified, 464 (84.1%) were single-nucleotide variants or short insertions/deletions. These variants were either located in recently published novel disease genes (n = 67), recently reclassified in ClinVar (n = 187) or reclassified by consensus expert decision within Solve-RD (n = 210). Bespoke bioinformatics analyses identified the remaining 15.9% of causative variants (n = 88). Ad hoc expert review, parallel to the systematic reanalysis, diagnosed 249 (4.1%) additional families for an overall diagnostic yield of 12.6%. The infrastructure and collaborative networks set up by Solve-RD can serve as a blueprint for future further scalable international efforts. The resource is open to the global rare-disease community, allowing phenotype, variant and gene queries, as well as genome-wide discoveries.
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000276800 650_2 $$2MeSH$$aHumans
000276800 650_2 $$2MeSH$$aRare Diseases: genetics
000276800 650_2 $$2MeSH$$aRare Diseases: diagnosis
000276800 650_2 $$2MeSH$$aEurope
000276800 650_2 $$2MeSH$$aMale
000276800 650_2 $$2MeSH$$aGenomics: methods
000276800 650_2 $$2MeSH$$aFemale
000276800 650_2 $$2MeSH$$aPedigree
000276800 650_2 $$2MeSH$$aDatabases, Genetic
000276800 650_2 $$2MeSH$$aComputational Biology: methods
000276800 650_2 $$2MeSH$$aGenome, Human: genetics
000276800 650_2 $$2MeSH$$aExome: genetics
000276800 7001_ $$aSteyaert, Wouter$$b1
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000276800 7001_ $$00000-0002-8879-6001$$aPolavarapu, Kiran$$b3
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000276800 7001_ $$00000-0001-6850-9290$$aSommer, Anna K$$b5
000276800 7001_ $$aDemidov, German$$b6
000276800 7001_ $$00000-0003-4845-5795$$aEllwanger, Kornelia$$b7
000276800 7001_ $$aParamonov, Ida$$b8
000276800 7001_ $$aThomas, Coline$$b9
000276800 7001_ $$aAretz, Stefan$$b10
000276800 7001_ $$aBaets, Jonathan$$b11
000276800 7001_ $$00000-0002-0819-604X$$aBenetti, Elisa$$b12
000276800 7001_ $$00000-0002-0737-4422$$aBullich, Gemma$$b13
000276800 7001_ $$aChinnery, Patrick F$$b14
000276800 7001_ $$aClayton-Smith, Jill$$b15
000276800 7001_ $$aCohen, Enzo$$b16
000276800 7001_ $$00000-0003-0900-3411$$aDanis, Daniel$$b17
000276800 7001_ $$00000-0002-7753-8226$$ade Sainte Agathe, Jean-Madeleine$$b18
000276800 7001_ $$00000-0002-8986-8222$$aDenommé-Pichon, Anne-Sophie$$b19
000276800 7001_ $$00000-0003-2941-7988$$aDiaz-Manera, Jordi$$b20
000276800 7001_ $$00000-0003-4900-9877$$aEfthymiou, Stephanie$$b21
000276800 7001_ $$aFaivre, Laurence$$b22
000276800 7001_ $$aFernandez-Callejo, Marcos$$b23
000276800 7001_ $$00000-0003-2949-3921$$aFreeberg, Mallory$$b24
000276800 7001_ $$aGarcia-Pelaez, José$$b25
000276800 7001_ $$00000-0002-0287-3361$$aGuillot-Noel, Lena$$b26
000276800 7001_ $$00000-0001-6033-4836$$aHaack, Tobias B$$b27
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000276800 7001_ $$00000-0002-4914-3737$$aJohansson, Lennart$$b33
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000276800 7001_ $$aKamsteeg, Erik-Jan$$b35
000276800 7001_ $$0P:(DE-2719)9002384$$aKellner, Melanie$$b36
000276800 7001_ $$aKleefstra, Tjitske$$b37
000276800 7001_ $$aLacombe, Didier$$b38
000276800 7001_ $$00000-0003-2324-8001$$aLochmüller, Hanns$$b39
000276800 7001_ $$00000-0003-3212-1424$$aLópez-Martín, Estrella$$b40
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000276800 7001_ $$00000-0002-9102-5232$$aMuntoni, Francesco$$b45
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000276800 7001_ $$aPiscia, Davide$$b57
000276800 7001_ $$aPosada, Manuel$$b58
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000276800 7001_ $$aSchütz, Leon$$b65
000276800 7001_ $$aSteinke-Lange, Verena$$b66
000276800 7001_ $$aStevanin, Giovanni$$b67
000276800 7001_ $$00000-0001-9046-3540$$aStraub, Volker$$b68
000276800 7001_ $$00000-0002-6552-8362$$aSturm, Marc$$b69
000276800 7001_ $$aSwertz, Morris A$$b70
000276800 7001_ $$00000-0001-7736-9672$$aTartaglia, Marco$$b71
000276800 7001_ $$aTe Paske, Iris B A W$$b72
000276800 7001_ $$aThompson, Rachel$$b73
000276800 7001_ $$aTorella, Annalaura$$b74
000276800 7001_ $$aTrainor, Christina$$b75
000276800 7001_ $$aUdd, Bjarne$$b76
000276800 7001_ $$aVan de Vondel, Liedewei$$b77
000276800 7001_ $$avan de Warrenburg, Bart$$b78
000276800 7001_ $$00000-0002-0658-4399$$avan Reeuwijk, Jeroen$$b79
000276800 7001_ $$aVandrovcova, Jana$$b80
000276800 7001_ $$aVitobello, Antonio$$b81
000276800 7001_ $$aVos, Janet$$b82
000276800 7001_ $$aVyhnálková, Emílie$$b83
000276800 7001_ $$aWijngaard, Robin$$b84
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000276800 7001_ $$00000-0001-7824-5073$$aWilliam, Doreen$$b86
000276800 7001_ $$0P:(DE-2719)9002275$$aXu, Jishu$$b87
000276800 7001_ $$aYaldiz, Burcu$$b88
000276800 7001_ $$aZalatnai, Luca$$b89
000276800 7001_ $$aZurek, Birte$$b90
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000276800 7001_ $$00000-0001-8686-0017$$aBrookes, Anthony J$$b96
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