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Florian, K.* ; Benet-Pages, A. ; Berner, D.* ; Teubert, A.* ; Eck, S.* ; Arnold, N.* ; Bauer, P.* ; Begemann, M.* ; Sturm, M.* ; Kleinle, S.* ; Haack, T.B.* ; Eggermann, T.*

Quality assurance within the context of genome diagnostics (a german perspective).

Med. Genet. 35, 91-104 (2023)
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The rapid and dynamic implementation of Next-Generation Sequencing (NGS)-based assays has revolutionized genetic testing, and in the near future, nearly all molecular alterations of the human genome will be diagnosable via massive parallel sequencing. While this progress will further corroborate the central role of human genetics in the multidisciplinary management of patients with genetic disorders, it must be accompanied by quality assurance measures in order to allow the safe and optimal use of knowledge ascertained from genome diagnostics. To achieve this, several valuable tools and guidelines have been developed to support the quality of genome diagnostics. In this paper, authors with experience in diverse aspects of genomic analysis summarize the current status of quality assurance in genome diagnostics, with the aim of facilitating further standardization and quality improvement in one of the core competencies of the field.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Data Processing ; Next Generation Sequencing ; Quality Assurance ; Variant Classifications; Secondary Findings; Medical Genetics; American-college; Guidelines; Standards; Recommendation; Association
Language english
Publication Year 2023
HGF-reported in Year 2023
ISSN (print) / ISBN 0936-5931
e-ISSN 1863-5490
Journal Medizinische Genetik
Quellenangaben Volume: 35, Issue: 2, Pages: 91-104 Article Number: , Supplement: ,
Publisher Springer
Publishing Place Genthiner Strasse 13, D-10785 Berlin, Germany
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
POF-Topic(s) 30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503200-001
DOI 10.1515/medgen-2023-2028
WOS ID 001010548200002
Scopus ID 85162202196
PubMed ID 38840862
Erfassungsdatum 2023-12-08
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