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@ARTICLE{SchleFreyer:155566,
      author       = {Schüle-Freyer, Rebecca and Timmann, Dagmar and Erasmus,
                      Corrie E and Reichbauer, Jennifer and Wayand, Melanie and
                      van de Warrenburg, Bart and Schöls, Ludger and Wilke, Carlo
                      and Bevot, Andrea and Zuchner, Stephan and Beltran, Sergi
                      and Laurie, Steven and Matalonga, Leslie and Graessner, Holm
                      and Synofzik, Matthis},
      collaboration = {Solve-RD-DITF-RND and Consortium, Solve-RD},
      title        = {{S}olving unsolved rare neurological diseases-a
                      {S}olve-{RD} viewpoint.},
      journal      = {European journal of human genetics},
      volume       = {29},
      number       = {9},
      issn         = {1476-5438},
      address      = {Basingstoke},
      publisher    = {Stockton Press},
      reportid     = {DZNE-2021-00744},
      pages        = {1332-1336},
      year         = {2021},
      abstract     = {Rare 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.},
      keywords     = {Datasets as Topic / Genetic Testing: methods / Genetic
                      Testing: standards / Genomics: methods / Genomics: standards
                      / Humans / Nervous System Diseases: genetics / Nervous
                      System Diseases: pathology / Practice Guidelines as Topic /
                      Rare Diseases: genetics / Rare Diseases: pathology / Exome
                      Sequencing: methods / Exome Sequencing: standards},
      cin          = {AG Gasser / AG Maetzler / Core ICRU},
      ddc          = {610},
      cid          = {I:(DE-2719)1210000 / I:(DE-2719)5000024 /
                      I:(DE-2719)1240005},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pmc          = {pmc:PMC8440537},
      pubmed       = {pmid:33972714},
      doi          = {10.1038/s41431-021-00901-1},
      url          = {https://pub.dzne.de/record/155566},
}