Rowida Almomani and colleagues present a whole-exome sequencing analysis of consanguineous family with idiopathic pediatric cardiomyopathy. They identified a newly causal homozygous truncating mutations in ALPK3 gene.
Almomani, Rowida et al. Journal of the American College of Cardiology.
"We have found Alamut to be an immensely useful tool, and would recommend Alamut to anyone looking for a powerful yet straightforward software program that is able to accurately catalogue and evaluate mutations."
JOHN GARCIA, Invitae
San Francisco, USA