It is approaching the end of 2020. I thought it would be appropriate to end the year by reviewing some of my favourite papers from @ejhg_journal in 2020.

For January my choice is in the challenging area of sudden cardiac death: https://www.nature.com/articles/s41431-019-0500-8

As Clinical Geneticists we are often asked to arrange testing for individuals who passed from sudden cardiac death. A gene panel approach makes this feasible. It is often difficult to know what to tell families in terms of likely pick up rate.

In a nutshell this paper shows that if there are autopsy features of cardiomyopathy then diagnostic yield of a gene panel approximates that of living patients (ie 33%).