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.
The researchers were able to distinguish pathogenic variants from benign ones, which could help to improve diagnostic genetic testing.
The panels diagnose genetic heart disorders and are the first step in an expansion of the number of tests the firm intends to offer.
In PNAS this week: carbapenem resistance in Enterobacteriaceae, selection against educational attainment-linked variants, and more.
Technology Review points out that a new US presidential science advisor hasn't been selected.
Researchers find that blood tests might be able to help determine severity of a concussion, Wired reports.
President-elect Donald Trump considers other candidates for director of the National Institutes of Health, Nature News reports.