Home > Publications Database > Solving unsolved rare neurological diseases-a Solve-RD viewpoint. > print

001     155566
005     20240722121853.0
024 7 _ |a pmc:PMC8440537
|2 pmc
024 7 _ |a 10.1038/s41431-021-00901-1
|2 doi
024 7 _ |a pmid:33972714
|2 pmid
024 7 _ |a 1018-4813
|2 ISSN
024 7 _ |a 1476-5438
|2 ISSN
024 7 _ |a altmetric:105610188
|2 altmetric
037 _ _ |a DZNE-2021-00744
041 _ _ |a English
082 _ _ |a 610
100 1 _ |a Schüle-Freyer, Rebecca
|0 P:(DE-2719)2812018
|b 0
|e First author
|u dzne
245 _ _ |a Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
260 _ _ |a Basingstoke
|c 2021
|b Stockton Press
336 7 _ |a article
|2 DRIVER
336 7 _ |a Output Types/Journal article
|2 DataCite
336 7 _ |a Journal Article
|b journal
|m journal
|0 PUB:(DE-HGF)16
|s 1721640359_12030
|2 PUB:(DE-HGF)
336 7 _ |a ARTICLE
|2 BibTeX
336 7 _ |a JOURNAL_ARTICLE
|2 ORCID
336 7 _ |a Journal Article
|0 0
|2 EndNote
520 _ _ |a 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.
536 _ _ |a 353 - Clinical and Health Care Research (POF4-353)
|0 G:(DE-HGF)POF4-353
|c POF4-353
|f POF IV
|x 0
588 _ _ |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de
650 _ 2 |a Datasets as Topic
|2 MeSH
650 _ 2 |a Genetic Testing: methods
|2 MeSH
650 _ 2 |a Genetic Testing: standards
|2 MeSH
650 _ 2 |a Genomics: methods
|2 MeSH
650 _ 2 |a Genomics: standards
|2 MeSH
650 _ 2 |a Humans
|2 MeSH
650 _ 2 |a Nervous System Diseases: genetics
|2 MeSH
650 _ 2 |a Nervous System Diseases: pathology
|2 MeSH
650 _ 2 |a Practice Guidelines as Topic
|2 MeSH
650 _ 2 |a Rare Diseases: genetics
|2 MeSH
650 _ 2 |a Rare Diseases: pathology
|2 MeSH
650 _ 2 |a Exome Sequencing: methods
|2 MeSH
650 _ 2 |a Exome Sequencing: standards
|2 MeSH
700 1 _ |a Timmann, Dagmar
|b 1
700 1 _ |a Erasmus, Corrie E
|b 2
700 1 _ |a Reichbauer, Jennifer
|0 P:(DE-2719)2812712
|b 3
|u dzne
700 1 _ |a Wayand, Melanie
|0 P:(DE-2719)9001023
|b 4
|u dzne
700 1 _ |a Solve-RD-DITF-RND
|b 5
|e Collaboration Author
700 1 _ |a van de Warrenburg, Bart
|b 6
700 1 _ |a Schöls, Ludger
|0 P:(DE-2719)2810795
|b 7
|u dzne
700 1 _ |a Wilke, Carlo
|0 P:(DE-2719)2814101
|b 8
|u dzne
700 1 _ |a Bevot, Andrea
|b 9
700 1 _ |a Zuchner, Stephan
|b 10
700 1 _ |a Beltran, Sergi
|0 0000-0002-2810-3445
|b 11
700 1 _ |a Laurie, Steven
|0 0000-0003-3913-5829
|b 12
700 1 _ |a Matalonga, Leslie
|b 13
700 1 _ |a Graessner, Holm
|0 0000-0001-9803-7183
|b 14
700 1 _ |a Synofzik, Matthis
|0 P:(DE-2719)2811275
|b 15
|u dzne
700 1 _ |a Consortium, Solve-RD
|0 P:(DE-HGF)0
|b 16
|e Collaboration Author
773 _ _ |a 10.1038/s41431-021-00901-1
|0 PERI:(DE-600)2005160-8
|n 9
|p 1332-1336
|t European journal of human genetics
|v 29
|y 2021
|x 1476-5438
856 4 _ |u https://www.nature.com/articles/s41431-021-00901-1
856 4 _ |u https://pub.dzne.de/record/155566/files/19583.pdf
|y OpenAccess
856 4 _ |u https://pub.dzne.de/record/155566/files/19583.pdf?subformat=pdfa
|x pdfa
|y OpenAccess
909 C O |o oai:pub.dzne.de:155566
|p openaire
|p open_access
|p VDB
|p driver
|p dnbdelivery
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 0
|6 P:(DE-2719)2812018
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 3
|6 P:(DE-2719)2812712
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 4
|6 P:(DE-2719)9001023
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 7
|6 P:(DE-2719)2810795
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 8
|6 P:(DE-2719)2814101
910 1 _ |a Deutsches Zentrum für Neurodegenerative Erkrankungen
|0 I:(DE-588)1065079516
|k DZNE
|b 15
|6 P:(DE-2719)2811275
913 1 _ |a DE-HGF
|b Gesundheit
|l Neurodegenerative Diseases
|1 G:(DE-HGF)POF4-350
|0 G:(DE-HGF)POF4-353
|3 G:(DE-HGF)POF4
|2 G:(DE-HGF)POF4-300
|4 G:(DE-HGF)POF
|v Clinical and Health Care Research
|x 0
913 0 _ |a DE-HGF
|b Gesundheit
|l Erkrankungen des Nervensystems
|1 G:(DE-HGF)POF3-340
|0 G:(DE-HGF)POF3-344
|3 G:(DE-HGF)POF3
|2 G:(DE-HGF)POF3-300
|4 G:(DE-HGF)POF
|v Clinical and Health Care Research
|x 0
913 0 _ |a DE-HGF
|b Gesundheit
|l Erkrankungen des Nervensystems
|1 G:(DE-HGF)POF3-340
|0 G:(DE-HGF)POF3-345
|3 G:(DE-HGF)POF3
|2 G:(DE-HGF)POF3-300
|4 G:(DE-HGF)POF
|v Population Studies and Genetics
|x 1
914 1 _ |y 2021
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0150
|2 StatID
|b Web of Science Core Collection
|d 2022-11-11
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0160
|2 StatID
|b Essential Science Indicators
|d 2021-01-27
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1050
|2 StatID
|b BIOSIS Previews
|d 2022-11-11
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1190
|2 StatID
|b Biological Abstracts
|d 2021-01-27
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0600
|2 StatID
|b Ebsco Academic Search
|d 2022-11-11
915 _ _ |a JCR
|0 StatID:(DE-HGF)0100
|2 StatID
|b EUR J HUM GENET : 2021
|d 2022-11-11
915 _ _ |a WoS
|0 StatID:(DE-HGF)0113
|2 StatID
|b Science Citation Index Expanded
|d 2021-01-27
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)1030
|2 StatID
|b Current Contents - Life Sciences
|d 2022-11-11
915 _ _ |a OpenAccess
|0 StatID:(DE-HGF)0510
|2 StatID
915 _ _ |a Peer Review
|0 StatID:(DE-HGF)0030
|2 StatID
|b ASC
|d 2022-11-11
915 _ _ |a IF >= 5
|0 StatID:(DE-HGF)9905
|2 StatID
|b EUR J HUM GENET : 2021
|d 2022-11-11
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0300
|2 StatID
|b Medline
|d 2022-11-11
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0200
|2 StatID
|b SCOPUS
|d 2022-11-11
915 _ _ |a Creative Commons Attribution CC BY 4.0
|0 LIC:(DE-HGF)CCBY4
|2 HGFVOC
915 _ _ |a DBCoverage
|0 StatID:(DE-HGF)0199
|2 StatID
|b Clarivate Analytics Master Journal List
|d 2022-11-11
920 1 _ |0 I:(DE-2719)1210000
|k AG Gasser
|l Parkinson Genetics
|x 0
920 1 _ |0 I:(DE-2719)5000024
|k AG Maetzler
|l Functional Neurogeriatrics
|x 1
920 1 _ |0 I:(DE-2719)1240005
|k Core ICRU
|l Core ICRU
|x 2
980 _ _ |a journal
980 _ _ |a VDB
980 _ _ |a I:(DE-2719)1210000
980 _ _ |a I:(DE-2719)5000024
980 _ _ |a I:(DE-2719)1240005
980 _ _ |a UNRESTRICTED
980 1 _ |a FullTexts

LibraryCollectionCLSMajorCLSMinorLanguageAuthor
Marc 21