Journal Article

DZNE-2021-00860

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.

Gburek-Augustat, J. ; Schoene-Bake, J.-C. ; Bültmann, E. ; Haack, T. ; Buchert, R. ; Synofzik, M.DZNE* ; Biskup, S.Extern* ; Feuerhake, F. ; Sorge, I. ; Hartmann, H.

2021
Thieme Stuttgart [u.a.]

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Please use a persistent id in citations: doi:10.1055/s-0041-1726306

Abstract: New genetic testing technologies have revolutionized medicine within the past years. It is foreseeable that the development will continue with the introduction of new techniques. Nevertheless, despite improved technology, an exact clinical description of the phenotype is still necessary and it is important to critically question findings, both before initiating genetic testing and when interpreting the results. We present four brief case vignettes to point out difficulties associated with correctly interpreting genetic findings.

Keyword(s): Genetic Testing (MeSH) ; Humans (MeSH) ; Phenotype (MeSH)

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Contributing Institute(s):

1. Parkinson Genetics (AG Gasser 1)

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 - Clinical Medicine ; Current Contents - Life Sciences ; Ebsco Academic Search ; Essential Science Indicators ; IF < 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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