The study identified four variants in BAG3 that almost only occurred in African Americans and were associated with a nearly twofold increase in cardiac events.
The Garvan team has shown that whole-genome sequencing can diagnose more cases than targeted panels and is now demonstrating its cost-effectiveness.
Cases with genome and family history reports and controls with family history reports alone had comparable healthcare costs during the six months after receiving their reports.
Detection of pathogenic or likely pathogenic variants implicated in cardiomyopathy declines in individuals with self-reported ancestry from under-studied populations.
Retraction Watch reports that Nature has added an editor's note to a paper describing the correction of a pathogenic mutation in human embryos.
In Genome Biology this week: computational approach for analyzing noisy single-cell sequencing profiles, eQTLs of dilated cardiomyopathy, and more.
Minneapolis-St. Paul's KARE tells the story of a woman who'd thought she'd dodged genetic hypertrophic cardiomyopathy and sought testing for her children.
Investigators compared RNA sequence data in heart samples from individuals with dilated cardiomyopathy and samples from healthy transplant donor hearts.
An exome-wide association study involving almost 2,800 individuals with dilated cardiomyopathy led to six new and two known susceptibility loci.
After six months of follow up, the costs of additional tests and consultations in the group receiving whole-genome sequencing were not significantly higher than in the control group.
The UK's Human Fertility and Embryology Authority calls for consumer genetic testing companies to warn customers that testing could uncover family secrets, according to the Guardian.
The New York Times reports that United Nations delegates have been discussing how to govern the genetic resources of the deep sea.
Researchers have transplanted edited cells into mice that appear to combat cocaine addiction, New Scientist reports.
In PNAS this week: analysis of proteolytic enzymes secreted by circulating tumor cells, phylogenetic study of Fv1 evolution, and more.