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.
The firm also said it aims to soon begin human studies for its hepatic porphyria treatment ALN-AS1 and to select a development candidate for its program in primary hyperoxaluria type 1.
Both drugs are administered subcutaneously using Alnylam's GalNAc conjugates.
Bloomberg reports that the DNA-for-cash deal reported in Kentucky might be a more widespread scam.
St. Jude Children's Research Hospital scientists have treated infants with X-linked severe combined immunodeficiency using gene therapy in an early phase study.
St. Louis Public Radio reports that some African Americans are turning to DNA ancestry testing to help guide genealogical searches.
In Nature this week: a genomic analysis of the snailfish Pseudoliparis swirei, ancient DNA analysis gives insight into the introduction of farming to England, and more.