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hypercholesterolemia

Geisinger researchers will work with collaborators at the nonprofit FH Foundation to develop new methods for the identification and cascade testing of FH.

With exome sequences for tens of thousands of Finns, researchers identified deleterious variants linked to dozens of clinically relevant quantitative traits.

The study aims to enroll 10,000 Floridians to have their exomes screened for variants indicative of familial hypercholesterolemia risk.

As of January the project had returned 290 positive results for CDC Tier 1 conditions from 23,500 participants who had undergone exome sequencing.

Starting in early 2019, Yale plans to sign up at least 100,000 patients to analyze their genomes and EHR data for research and return of clinically actionable results.

The study aims to understand the willingness of individuals with a clinical diagnosis of familial hypercholesterolemia and their family members to undergo confirmatory genetic testing.

The MIT-led team that developed the delivery technique said that it was able to induce more than 80 percent editing of the Pcsk9 gene in the livers of mice. 

The latest offering puts the genetic testing company on the path toward becoming what it calls a preventive health service company.

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.

The firm's Seqpro Lipo IS is the first approved NGS diagnostic assay for the disease, which affects one in 300 people.

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Gene editing could be an issue competitive sports need to address soon, four researchers from Arizona State University write at Slate.

A genetic alteration appears to increase heart failure risk among people of African descent, according to the Washington Post.

In his look back at the past decade, BuzzFeed News' Peter Aldhous writes that direct-to-consumer genetic testing has led to "Facebook for genes."

In Nature this week: genetic "clock" that can predict the lifespans of vertebrates, new assembler called wtdbg2, and more.