In a pilot study of 92 individuals with familial or suspected genetic chronic kidney disease, researchers successfully diagnosed 24 percent of cases with exome sequencing.
The company, a division of cardiology clinic Spera Medical, is offering WGS with annual clinical reports as part of a long-term research study.
An ACMG workgroup has added four new genes, removed one gene, and said it would open up the nomination process to the broader community and consider PGx genes.
The University of Washington researchers intend to license the tool, called My46, to other academic and nonprofit research organizations free of charge.
The findings, published last week, have prompted Belgian medical genetics centers to routinely report maternal incidental findings from NIPT.
Researchers found that reporting an incidental genetic finding doesn't cause patients extra anxiety and may lead to positive changes if the disease is actionable.
The study, focused on two genes associated with cardiac disorders, found that patient phenotypes did not correlate with the presence or absence of a pathogenic variant.
Wolf and colleagues recently published a series of articles that included recommendations on how and when to share genomic data with research subjects' relatives.
The statement touches on issues such as the reporting of secondary findings, adult-onset conditions, incest, and non-paternity results.
When researchers find information relating to preventable or treatable life-threatening disease, 98 percent of the respondents said they wanted to be informed.
A phylogenetic analysis indicates two venomous Australian spiders are more closely related than thought, the International Business Times reports.
Technology Review reports that 2017 was the year of consumer genetic testing and that it could spur new analysis companies.
In Science this week: CRISPR-based approach for recording cellular events, and more.
A new company says it will analyze customers' genes to find them a suitable date, though Smithsonian magazine says the science behind it might be shaky.