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The company launched in 2013 as a spinout from Boston Children's Hospital to provide genetic diagnostic tests.
Funded with €15.4 million from the EU's Horizon 2020 program, the researchers plan to reanalyze almost 20,000 patient exomes and conduct additional tests on selected subgroups.
A PLUGS collaboration with EviCore resulted in the lab benefit manager creating a policy for covering whole-exome sequencing.
The test is offered to couples who have had an affected pregnancy, with the goal of providing a diagnosis to enable early prenatal or preimplantation genetic testing.
The firm, which specializes in neurogenetics, recently launched several diagnostic RNA sequencing tests and is working on a methylome test for imprinting disorders.
Geisinger is hoping to help others around the country implement precision medicine, which requires significant investment in genomics expertise, as well as infrastructural and operational changes.
MyGene2 holds cases from 1,225 families, submitted by 880 user accounts, which include 723 unique genes, among them many new disease genes.
Rainbow Genomics will offer exome-sequencing based screening and diagnostic tests developed by Baylor Genetics to patients in Asia.
The two firms will offer their technologies and services to patients in Hong Kong, Japan, and Macau to improve drug dosing and prescriptions.
Ambry will provide genetic testing in NorthShore’s Genomic Health Initiative in hopes of moving precision medicine into clinical practice.