At ASHG, researchers described how RNA sequencing can help clarify whether variants are likely to be pathogenic, improving diagnoses of genetic disorders.
In a meta-analysis of nearly 70,000 individuals, researchers estimated that low-frequency coding variants contribute about 5 percent of multiple sclerosis risk.
The study provided whole-exome diagnostic sequencing for 106 newborns with hearing loss while also offering optional screening results for genes associated with childhood-onset conditions.
Exome sequencing led to gain-of-function mutations in the calcium voltage-gated channel gene CACNA1E in 30 developmental and epileptic encephalopathy cases.
Palmetto GBA issued final local coverage determination for the tissue-based, 31-gene expression test, which determines a patient’s risk for metastatic disease.
The companies will use Natera's Signatera circulating tumor DNA assay to assess response to NEO-PV-01, a clinical trial-stage neoantigen cancer vaccine.
The companies will integrate Fabric's Enterprise NGS data analysis, interpretation, and clinical reporting platform with Genomenon's literature search engine.
By profiling the mutation patterns in secondary GBM cases, researchers found recurrent MET alterations and attempted to target it with a MET kinase inhibitor.
The firm said that the assay uses vaginal or rectal swabs to identify Group B Streptococcus DNA in about an hour. It has filed for 510(k) clearance with the US FDA.
The test is designed to detect the presence or absence of the Zika virus in serum or plasma collected alongside urine from patients with suspected infection.
The deal covers Cancer Genetics' microarray-based Tissue of Origin test, which analyzes 2,000 individual tumor genes to help identify a tumor's origin.
Researchers at Memorial Sloan Kettering Cancer Center identified clinically actionable germline mutations in 8.5 percent of about 2,700 unselected lung cancer patients.
