Germline Epigenetic Testing of Imprinting Disorders in a Diagnostic Setting
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DOI: 10.1007/978-981-13-8958-0_9
Abstract: Imprinting disorders are complex and ideally require diagnostic testing in a specialized laboratory. The testing laboratory must have a thorough understanding of the disease biology and testing platform limitations. As the biological basis for these… read more here.
Keywords: imprinting disorders; epigenetic testing; diagnostic setting; testing imprinting ... See more keywords
Comparison of performance metrics with digital 2D versus tomosynthesis mammography in the diagnostic setting
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DOI: 10.1007/s00330-018-5596-7
Abstract: ObjectivesTo compare performance metrics between digital 2D mammography (DM) and digital breast tomosynthesis (DBT) in the diagnostic setting.MethodsConsecutive diagnostic examinations from August 2008 to February 2011 (DM group) and from January 2013 to July 2015… read more here.
Keywords: diagnostic setting; tomosynthesis; group; dbt ... See more keywords
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-020-00713-9
Abstract: Despite clear technical superiority of genome sequencing (GS) over other diagnostic methods such as exome sequencing (ES), few studies are available regarding the advantages of its clinical application. We analyzed 1007 consecutive index cases for… read more here.
Keywords: sequencing diagnostic; index cases; diagnostic setting; application ... See more keywords