The partnership stands to accelerate the Utah Genome Project, which aims to discover new disease-causing genes and advance tests by studying large families.
Helix plans to launch its first consumer products this year and has a goal of bringing its platform through US Food and Drug Administration clearance.
In a cohort of some 300 people with intellectual disability, a genomic approach offered a likely diagnosis some 60 percent of the time.
Researchers in Portugal are conducting a 150-patient retrospective validation of the assay and hope to eventually use it to monitor lung cancer patients.
Responding to initial criticism of the draft guidelines on NGS testing, Mansfield emphasized that the documents are not final and assured that the agency will continue to listen to stakeholders.
In PLOS this week: cell-free DNA from tumors is shorter than DNA from healthy cells, type 2 diabetes-related loci, and more.
Genetic analysis confirms that blood found on leaves collected near Marche-les-Dames some 80 years ago belongs to King Albert I of Belgium.
Researchers in the US begin to seek participants for the 1 million-person precision medicine cohort, the New York Times reports.
A new report indicates that women are underrepresented among US patent holders.