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Quality assurance within the context of genome diagnostics (a german perspective).
Med. Genet. 35, 91-104 (2023)
Verlagsversion
DOI
PMC
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
ISSN (print) / ISBN
0936-5931
e-ISSN
1863-5490
Zeitschrift
Medizinische Genetik
Quellenangaben
Band: 35,
Heft: 2,
Seiten: 91-104
Verlag
Springer
Verlagsort
Genthiner Strasse 13, D-10785 Berlin, Germany
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Neurogenomics (ING)