Journal Article

DZNE-2021-00744

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Solving unsolved rare neurological diseases-a Solve-RD viewpoint.

Schüle-Freyer, R. (First author)DZNE* ; Timmann, D. ; Erasmus, C. E. ; Reichbauer, J.DZNE* ; Wayand, M.DZNE* ; Solve-RD-DITF-RND (Collaboration Author) ; van de Warrenburg, B. ; Schöls, L.DZNE* ; Wilke, C.DZNE* ; Bevot, A. ; Zuchner, S. ; Beltran, S. ; Laurie, S. ; Matalonga, L. ; Graessner, H. ; Synofzik, M.DZNE* ; Consortium, S.-R. (Collaboration Author)

2021
Stockton Press Basingstoke

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Please use a persistent id in citations: doi:10.1038/s41431-021-00901-1

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.

Keyword(s): Datasets as Topic (MeSH) ; Genetic Testing: methods (MeSH) ; Genetic Testing: standards (MeSH) ; Genomics: methods (MeSH) ; Genomics: standards (MeSH) ; Humans (MeSH) ; Nervous System Diseases: genetics (MeSH) ; Nervous System Diseases: pathology (MeSH) ; Practice Guidelines as Topic (MeSH) ; Rare Diseases: genetics (MeSH) ; Rare Diseases: pathology (MeSH) ; Exome Sequencing: methods (MeSH) ; Exome Sequencing: standards (MeSH)

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser)
2. Functional Neurogeriatrics (AG Maetzler)
3. Core ICRU (Core ICRU)

Research Program(s):

1. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2021

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Database coverage:
; ; ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Life Sciences ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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Linked articles:

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Journal Article (Erratum/Correction) Schüle-Freyer, R. (First author)DZNE* ; Timmann, D. ; Erasmus, C. E. ; et al
Correction: Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
European journal of human genetics 29(9), 1462 - 1465 (2021) [10.1038/s41431-021-00935-5]2021   Fulltext by Pubmed Central BibTeX | EndNote: XML, Text | RIS

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