Perceptions of genetic variant reclassification in patients with inherited cardiac disease
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DOI: 10.1038/s41431-019-0377-6
Abstract: Interpretation of sequence variants is an ongoing challenge and new approaches aim to increase stringency. The reclassification of variants has the potential to alter medical management and elicit psychosocial consequences for patients. The perspective of… read more here.
Keywords: reclassification; cardiac disease; variant reclassification; inherited cardiac ... See more keywords
Disease-specific variant pathogenicity prediction significantly improves variant interpretation in inherited cardiac conditions
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DOI: 10.1038/s41436-020-00972-3
Abstract: Purpose Accurate discrimination of benign and pathogenic rare variation remains a priority for clinical genome interpretation. State-of-the-art machine learning variant prioritization tools are imprecise and ignore important parameters defining gene–disease relationships, e.g., distinct consequences of… read more here.
Keywords: disease specific; specific variant; cardiac conditions; disease ... See more keywords
Patient & public involvement for inherited cardiac conditions
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DOI: 10.1093/eurjcn/zvab060.086
Abstract: National Institute for Health Research King"s Health Partners Patient & Public Involvement for Inherited Cardiac Conditions (PPIICC) group Inherited Cardiac Conditions (ICCs) affect up to 1:200 of the population and is the leading cause of… read more here.
Keywords: intervention; pisicc; cardiac conditions; group ... See more keywords
Family screening in inherited cardiac conditions: predicting likelihood of a diagnosis
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DOI: 10.1093/eurjpc/zwad125.006
Abstract: Type of funding sources: Private grant(s) and/or Sponsorship. Main funding source(s): Cardiovascular Research Scholarship awarded by 'Research, Innovation and Development Trust (University of Malta)', kindly donated by Beating Hearts Malta. Scholarship awarded by Tertiary Education… read more here.
Keywords: family; likelihood diagnosis; diagnosis; family screening ... See more keywords
A tailored approach towards informing relatives at risk of inherited cardiac conditions: study protocol for a randomised controlled trial
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DOI: 10.1136/bmjopen-2018-025660
Abstract: Introduction In current practice, probands are asked to inform relatives about the possibility of predictive DNA testing when a pathogenic variant causing an inherited cardiac condition (ICC) is identified. Previous research on the uptake of… read more here.
Keywords: randomised controlled; trial; controlled trial; inherited cardiac ... See more keywords
22 Traffic lights system a tool for paediatric inherited cardiac conditions patients produced by nurse specialists for patients and their families
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DOI: 10.1136/heartjnl-2017-bcca.22
Abstract: Purpose NHS England (2016) recognises that Early Warning Scores (EWS) aid identification of children at risk of clinical deterioration. NICE (2007) have strongly advised that EWS should be utilised for all inpatients. However, there is… read more here.
Keywords: traffic; system; cardiac conditions; tool ... See more keywords
iPSC-Derived Cardiomyocytes in Inherited Cardiac Arrhythmias: Pathomechanistic Discovery and Drug Development
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DOI: 10.3390/biomedicines11020334
Abstract: With the discovery of induced pluripotent stem cell (iPSCs) a wide range of cell types, including iPSC-derived cardiomyocytes (iPSC-CM), can now be generated from an unlimited source of somatic cells. These iPSC-CM are used for… read more here.
Keywords: ipsc derived; cardiac arrhythmias; inherited cardiac; derived cardiomyocytes ... See more keywords