cardiomyopathy | GenomeWeb

cardiomyopathy

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.

This Week in Science

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.

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In Science this week: genetic target for urothelial bladder cancer treatment, and more.

At the Conversation, the University of Oxford's Michael Macklay writes that learning genetic risk of disease is a personal decision.

Two dozen scientific organizations have endorsed the March for Science, according to ScienceInsider.

Researchers in Japan describe a chimpanzee with a chromosomal abnormality similar to human Down syndrome, Mashable reports.