At the Precision Medicine World Conference, researchers from Sanford Health, Providence Health, and Israel's Maccabi discussed their genomics programs.
The researchers found that low-frequency variants in TP53 had a large effect on head circumference and volume, suggesting a previously unknown role for the gene.
The clearance enables 23andMe to report on the two most common variations in the MUTYH gene influencing MAP, which increases risk of CRC development.
One locus appears to be more common among individuals with Native American or East Asian ancestry and suggests there was convergent evolution of skin color among Eurasians.
A number of the genes implicated are also the targets of approved therapeutics or of ones under testing.
Researchers were able to classify 1,244 of 4,585 putatively clinically relevant rare variants genotyped on the UKB microarray as high quality.
Results from two GWAS studies suggest that 15-LO inhibitors could be a viable treatment for nasal polyps and chronic rhinosinusitis.
Researchers uncovered nearly a hundred loci to general risk tolerance and hundreds more to particular risky behaviors.
Lineagen hopes to use PWNHealth's consumer-oriented model to expand access to its testing services for developmental delay and autism spectrum disorder.
Arbor Biosciences' portfolio includes custom DNA microarrays and oligonucleotide libraries, as well as a line of targeted sequencing panels.
With ever more data in hand, providers are seeking to enhance their services, providing more detailed ancestry estimates while introducing new offerings around genetic traits and health.
An array-based analysis involving more than two dozen patients led to a miRNA signature associated with overall survival in primary central nervous system lymphoma.
The firm's fourth quarter preliminary revenues increased by 11 percent to $865 million year over year, while full-year revenues jumped by 21 percent to $3.3 billion.
Further analysis linked the new loci to genes implicated in immune-related tissues and cell types, as well as to lipid-related processes, suggesting their involvement in disease development
The test combines qPCR and microarray technology to detect carbapenemase-producing enterobacteriaceae, a bacteria resistance to carbapenem antibiotics.
The firm reported that it expects product and service revenue of approximately $23.5 million for the fourth quarter of last year and $83.5 million for full-year 2018.
Upon clearance of the platform, the company will commercialize the TruDiagnosis, an IVD system for genotyping multiple genes in a DNA sample, this year.
A GWAS meta-analysis involving 10,074 PCOS cases revealed three new and 11 known risk loci, along with a relatively consistent genetic architecture among cases.
While canine genetic testing providers bemoan a lack of quality standards, they disagree on what specific rules labs should follow.
The government has also pledged €5 million from the European Regional Development Fund to support the integration of genetic data into routine medical care.
Matt Hancock, the UK health secretary, is calling for the swift rollout of predictive genetic tests, the Guardian reports.
A WHO panel is calling for a global registry of human germline gene-editing projects, according to Stat News.
Vox writes that lab mishaps involving pathogens are quite common.
In Genome Biology this week: analysis of wild and cultivated peach genomes, Hi-C-based pipeline for assembling microbial genomes from metagenomic data, and more.