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.
The investment bank said that PacBio's SMRT sequencing technology has always been attractive compared to traditional NGS shotgun sequencing.
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 team's Pro-Code system enabled simultaneous high-dimensional protein-level phenotyping of hundreds of genes with single-cell resolution.
Count Me In is aiming to sign up more than 100,000 patients across all major cancer types, as well as rare cancers, over the next several years.
The project aims to identify biomarkers for predicting response and adverse events in urothelial carcinoma patients receiving immunotherapy.
The company plans to use the technology, originally developed by Good Start Genetics, to offer sample preparation solutions and data analysis for NGS.
The companies will integrate Fabric's Enterprise NGS data analysis, interpretation, and clinical reporting platform with Genomenon's literature search engine.
Researchers saw frequent somatic mutations in esophageal tissue from nine individuals, including mutations under positive selection in 14 oncogenes.
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.
Within diagnostics, Beckman Coulter saw core revenue growth in the low-single digits, while Cepheid was up in the double digits for the quarter.
The deal is expected to close by the end of 2018 and to contribute between $40 million and $50 million in revenues to Luminex in 2019.
Biomatrica's sample collection tubes ensure quality preservation of circulating tumor DNA and cells, promoting high-quality liquid biopsy results, Exact said.
Privately owned Oxford Nanopore offers a range of tools and and instruments based on a proprietary nanopore-based DNA and RNA sequencing technology.
Researchers describe a way to share data while keeping it secure, Agence France Presse reports.
India's Council of Scientific and Industrial Research has a new director-general, according to ScienceInsider.
A new study links more than a hundred genes to autism spectrum disorder, Discover's D-brief blog reports.
In Science this week: genetic mutations typically associated with esophageal cancer are common in older, healthy individuals, and more.