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hypercholesterolemia

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.

Genetic study of familial hypercholesterolemia implicates link between type 2 diabetes risk and cholesterol transport.

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In PLOS this week: preconception carrier screening program results, comparative genomics-based analysis of Elizabethkingia meningoseptica, and more.

Canadian regulators are beginning to share information from new drug studies, Undark reports.

In a column at the Dallas Morning News, the Stanley Medical Research Institute's E. Fuller Torrey says the Human Genome Project hasn't delivered on promised results.

Researchers explore a possible genetic cause for some cases of sudden infant death syndrome, KOMO News reports.