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.
A significant proportion of women with peripartum cardiomyopathy had truncating mutations in genes previously implicated in dilated cardiomyopathy.
The company's platform offers space and computational tools for exploring, sharing, and storing genomic data in the context of genetic disorders.
With the funding, OSU researchers will conduct cardiovascular phenotyping and exome sequencing of DCM patients of European, African, and Hispanic ancestry.
A new version of its system planned for summer release will feature a score that helps clinicians prioritize variants and an expanded knowledgebase.
The panel profiles more than 100 genes associated with inherited heart conditions, and may enable more efficient, cost-effective identification of causal mutations.
In Science this week: mutations in titin associated with dilated cardiomyopathy, and more.
Polygamy amplified a rare genetic disease in area near Arizona-Utah border, BBC Future reports.
Genetic ancestry testing led one woman to learn that her father and another baby boy had been switched at birth, the Washington Post reports.
Simple de-identification methods can protect information in a database from attackers, a new study suggests.
In Science this week: approach to visualize chromatin structure in nuclei, and more.