Diagnostic yield from cardiac gene panel testing for inherited cardiac conditions in a large Irish cohort
Sign Up to like & getrecommendations! Published in 2021 at "European Heart Journal"
DOI: 10.1093/eurheartj/ehab724.1746
Abstract: Inherited cardiomyopathies (hypertrophic, dilated and arrhythmogenic) and cardiac ion channelopathies (long QT, Brugada and CPVT) predispose to sudden cardiac death/sudden arrhythmic death syndrome. Given their genetically heterogenous nature, multi-gene DNA sequencing panels are useful to… read more here.
Keywords: actionable variants; cohort; diagnostic yield; panel ... See more keywords
Identifying Actionable Variants in Cancer - The Dual Web and Batch Processing Tool MTB-Report
Sign Up to like & getrecommendations! Published in 2022 at "Studies in health technology and informatics"
DOI: 10.3233/shti220806
Abstract: Next-generation sequencing methods continuously provide clinicians and researchers in precision oncology with growing numbers of genomic variants found in cancer. However, manually interpreting the list of variants to identify reliable targets is an inefficient and… read more here.
Keywords: tool; cancer; report; batch processing ... See more keywords