At the ACMG annual conference in Phoenix last week, several labs and companies discussed their efforts in healthy genome sequencing.
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.
A fire at a Manchester hospital may have destroyed lab equipment and data, the Guardian reports.
Researchers generate a genetic database from skeletal remains from the 1845 Franklin Expedition to the Arctic, Live Science reports.
Researchers in China have begun another trial using CRISPR/Cas9 approaches in cancer patients, according to the Wall Street Journal.
In Science this week: human DNA found in sediments from archeological sites lacking bones, and more.