The study, which evaluated data from 65,000 women on 21 genes, identified new risk genes and those that confer no risk, and the findings may have clinical implications.
The research team's data demonstrated that Sanger confirmation is necessary to provide accurate NGS test results to patients.
A retrospective review of panel sequencing data presented at the National Society of Genetic Counselors conference linked BRCA2 to primary brain cancer cases.
The prospective multi-site research study aims to determine the mutation prevalence of pancreatic cancer patients with a hereditary predisposition to the disease.
Drug developers and genetic testing firms are contemplating how best to share variant classification data while protecting their commercial interests.
Ambry's new lab provides a streamlined, automated workflow that has allowed the company to triple its daily testing volume since it opened more than four months ago.
As the genomics field increasingly recognizes the importance of data sharing, Ambry has upped the ante by sequencing thousands of exomes and launching an open database.
Ambry Genetics is to make aggregated customer data publicly available, the New York Times says.
Ambry will use Progeny's software solutions and risk assessment tools to simplify client workflows.
In PNAS this week: diatom genetic diversity, microfluidic droplet method for single-cell screening, and more.
Scientific publishers are looking into whether artificial intelligence can help the peer-review process, Wired reports.
Researchers are using gene editing to develop more robust livestock and crops, AFP reports.
Researchers rally near the American Association for the Advancement of Science annual meeting in Boston.