Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing

Conclusion
Molecular autopsy using targeted exome sequencing has a relatively low diagnostic yield of very rare potentially disease causing mutations. Candidate pathogenic variants with a higher frequency in control populations are relatively common and should be interpreted with caution.

Source: Europace - June 12, 2016 Category: Cardiology Authors: Nunn, L. M., Lopes, L. R., Syrris, P., Murphy, C., Plagnol, V., Firman, E., Dalageorgou, C., Zorio, E., Domingo, D., Murday, V., Findlay, I., Duncan, A., Carr-White, G., Robert, L., Bueser, T., Langman, C., Fynn, S. P., Goddard, M., White, A., Bundgaard, Tags: Channelopathies Source Type: research