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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)
Verlagsversion DOI PMC
Open Access Hybrid
Creative Commons Lizenzvertrag
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Data Processing ; Next Generation Sequencing ; Quality Assurance ; Variant Classifications; Secondary Findings; Medical Genetics; American-college; Guidelines; Standards; Recommendation; Association
Sprache englisch
Veröffentlichungsjahr 2023
HGF-Berichtsjahr 2023
ISSN (print) / ISBN 0936-5931
e-ISSN 1863-5490
Zeitschrift Medizinische Genetik
Quellenangaben Band: 35, Heft: 2, Seiten: 91-104 Artikelnummer: , Supplement: ,
Verlag Springer
Verlagsort Genthiner Strasse 13, D-10785 Berlin, Germany
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Neurogenomics (ING)
POF Topic(s) 30205 - Bioengineering and Digital Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) 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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