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000155566 1001_ $$0P:(DE-2719)2812018$$aSchüle-Freyer, Rebecca$$b0$$eFirst author$$udzne
000155566 245__ $$aSolving unsolved rare neurological diseases-a Solve-RD viewpoint.
000155566 260__ $$aBasingstoke$$bStockton Press$$c2021
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000155566 520__ $$aRare genetic neurological disorders (RND; ORPHA:71859) are a heterogeneous group of disorders comprising >1700 distinct genetic disease entities. However, genetic discoveries have not yet translated into dramatic increases of diagnostic yield and indeed rates of molecular genetic diagnoses have been stuck at about 30–50% across NGS modalities and RND phenotypes [1, 2]. Existence of yet unknown disease genes as well as shortcomings of commonly employed NGS technologies and analysis pipelines in detecting certain variant types are typically cited to explain the low diagnosis rates.To increase the diagnostic yield in RNDs - one of the four focus disease groups in Solve-RD - we follow two major approaches, that we will here present and exemplify: (i) systematic state-of the art re-analysis of large cohorts of unsolved whole-exome/genome sequencing (WES/WGS) RND datasets; and (ii) novel-omics approaches. Based on the way Solve-RD systematically organizes researchers’ expertise to channel this approach [3], the European Reference Network for Rare Neurological Diseases (ERN-RND) has established its own Data Interpretation Task Force (DITF) within SOLVE-RD, which is currently composed of clinical and genetic experts from 29 sites in 15 European countries.
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000155566 650_2 $$2MeSH$$aDatasets as Topic
000155566 650_2 $$2MeSH$$aGenetic Testing: methods
000155566 650_2 $$2MeSH$$aGenetic Testing: standards
000155566 650_2 $$2MeSH$$aGenomics: methods
000155566 650_2 $$2MeSH$$aGenomics: standards
000155566 650_2 $$2MeSH$$aHumans
000155566 650_2 $$2MeSH$$aNervous System Diseases: genetics
000155566 650_2 $$2MeSH$$aNervous System Diseases: pathology
000155566 650_2 $$2MeSH$$aPractice Guidelines as Topic
000155566 650_2 $$2MeSH$$aRare Diseases: genetics
000155566 650_2 $$2MeSH$$aRare Diseases: pathology
000155566 650_2 $$2MeSH$$aExome Sequencing: methods
000155566 650_2 $$2MeSH$$aExome Sequencing: standards
000155566 7001_ $$aTimmann, Dagmar$$b1
000155566 7001_ $$aErasmus, Corrie E$$b2
000155566 7001_ $$0P:(DE-2719)2812712$$aReichbauer, Jennifer$$b3$$udzne
000155566 7001_ $$0P:(DE-2719)9001023$$aWayand, Melanie$$b4$$udzne
000155566 7001_ $$aSolve-RD-DITF-RND$$b5$$eCollaboration Author
000155566 7001_ $$avan de Warrenburg, Bart$$b6
000155566 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b7$$udzne
000155566 7001_ $$0P:(DE-2719)2814101$$aWilke, Carlo$$b8$$udzne
000155566 7001_ $$aBevot, Andrea$$b9
000155566 7001_ $$aZuchner, Stephan$$b10
000155566 7001_ $$00000-0002-2810-3445$$aBeltran, Sergi$$b11
000155566 7001_ $$00000-0003-3913-5829$$aLaurie, Steven$$b12
000155566 7001_ $$aMatalonga, Leslie$$b13
000155566 7001_ $$00000-0001-9803-7183$$aGraessner, Holm$$b14
000155566 7001_ $$0P:(DE-2719)2811275$$aSynofzik, Matthis$$b15$$udzne
000155566 7001_ $$0P:(DE-HGF)0$$aConsortium, Solve-RD$$b16$$eCollaboration Author
000155566 773__ $$0PERI:(DE-600)2005160-8$$a10.1038/s41431-021-00901-1$$n9$$p1332-1336$$tEuropean journal of human genetics$$v29$$x1476-5438$$y2021
000155566 8564_ $$uhttps://www.nature.com/articles/s41431-021-00901-1
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