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.
Harvard researchers found that variants previously classified as pathogenic were in fact benign, disproportionately affecting patients of African ancestry.
Last week, the firm launched AtheroGxOne the second of two cardiovascular next-gen sequencing panels, and hopes to launch its first liquid biopsy test in 2017.
Researchers have treated an X-linked genetic disease affecting three babies in utero, Stat News reports.
The Associated Press reports that the US Centers for Disease Control and Prevention is beefing up sequencing as a tool to investigate foodborne illnesses.
Researchers have sequenced samples from ancient toilets to study past eating habits and health, NPR reports.
In Nature this week: ash dieback disease fungal genome, and more.