Researchers found diagnostically informative single-gene mutations in five of the 19 idiopathic liver diseases cases they assessed with exome sequencing.
Individuals identified as needing homozygous FH evaluation will receive confirmatory genetic testing from Invitae and genetic counseling from Genome Medical.
In the JAMA study, researchers confirmed the previously known clinical and genomic features of NSCLC patients in their large clinico-genomics database.
In a retrospective analysis, UK researchers found that long-read sequencing of HLA genes in stem cell transplantation donors and recipients led to better outcomes.
Patients within the project and their physicians will be able to access Genome Medical's genetic specialists to address concerns and incorporate genetic information into care.
Studies presented at the AACR meeting demonstrated how the registry can be used to evaluate how cancer patients with rare tumor markers respond to treatments.
The study supports the use of Envisia to help with the diagnosis of idiopathic pulmonary fibrosis, particularly in patients without a clear radiological result.
The hospital is in the process of clinically validating a sequencing pipeline for its pediatric cancer patients, with the goal of demonstrating clinical utility.
The test detects genomic drug resistance mutations in HIV-1 that can lead to treatment failure and is validated on the firm's automated Sentosa workflow.
The VA decided to bring this testing in house to streamline and standardize the process for doctors and gauge markers that are relevant to the veteran population.
Starting with samples from an 11-year-old boy with spitzoid melanoma, researchers identified recurrent MAP3K8 fusions that may respond to MEK inhibitors.
The consortium plans to develop recommendations on the best practices for implementing clinical whole-genome sequencing for rare genetic disease diagnosis.
The former commissioner of the FDA has returned to the venture capital firm New Enterprise Associates as a special partner on the healthcare investment team.
Emory University has found that two of its researchers failed to divulge they had received funds from China, according to the Atlanta Journal-Constitution.
