Related Experiment Video
Updated: Aug 18, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Sudden unexpected death: a national programme which will establish genetic testing and cardiological screening of
1Department of Cardiovascular Pathology, St Georges Medical School, Jenner Wing, Cranmer Terrace London SW17 ORE, University of London, Cranmer Terrace, London, SW17 ORE, UK. msheppar@sgul.ac.uk.
Abstract:
Sudden cardiac death (SCD) in young people is due to genetic cardiac causes in the majority of cases. In UK all cases have an autopsy and results are given to the family. We now have a national pathway with detailed programme to establish that all members of the family are screened by cardiologists in inherited cardiac centres . Also genetic testing of material taken at autopsy will be carried out in all cases which will be a valuable addition to the pathological and clinical findings. All this will aid the family in coming to terms with the tragic death and provide genotype phenotype correlation within the family to prevent future deaths.
Related Concept Videos
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Cardiomyopathy III: Hypertrophic Cardiomyopathy

