Through prospective pancreatic ductal adenocarcinoma testing, researchers saw germline mutations in new genes and in cases outside of current germline testing criteria.
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.
Researchers tie a variant in ADAMTS3 to breathing difficulties in dissimilar dog breeds, according to Discover's D-brief blog.
The Japan Times reports that researchers sequenced the genome of a woman who lived during the Jomon period.
Parents of children with rare genetic disease have to contend with shifts in the interpretation of genetic variants, the Wall Street Journal reports.
In Science this week: single-nucleus RNA sequencing of brain tissue from individuals with autism, and more.