variants of unknown significance

Investigators reported on efforts to help labs better implement guidelines and measure disease associations, and to create shared languages for variants across different databases.

The researchers said their findings could help classify BRCA1 variants, particularly one whose impact on cancer risk is currently not clear.

Franklin, an AI-driven variant classification tool, is helping Sanford Imagenetics reduce variants of unknown significance in its new ACMG-59 genotyping test.

Not Always an Answer

Sometimes genetic tests give inconclusive results and provide little reassurance to patients, the Associated Press reports.

Though the South Carolina Supreme Court said Quest was a healthcare provider, Williams can try to keep her case alive by arguing she's alleging ordinary negligence.

In a publication last week, researchers described efforts to improve in silico methods for investigating the pathogenicity of missense BRCA1/2 variants of unknown significance.

A study of more than 5,000 breast cancer patients found that multi-gene sequencing has rapidly replaced BRCA1/2-only tests, resulting in better pathogenic variant detection but also higher VUS rates.

The Israeli biotechnology firm hopes that a successful outcome of the study with Centre Léon-Bérard will raise its profile among oncologists.

Detection of pathogenic or likely pathogenic variants implicated in cardiomyopathy declines in individuals with self-reported ancestry from under-studied populations.

The court's determination is critical to deciding if Williams v Quest/Athena can advance or if it must be dismissed on statute of repose grounds. 

Pages

Senator Elizabeth Warren (D-Mass.) has released the results of a genetic ancestry analysis, the Boston Globe reports.

Retraction Watch's Ivan Oransky and Adam Marcus report that Harvard Medical School and Brigham and Women's Hospital have recommended that more than 30 papers from a former researcher be retracted.

Thomas Steitz, who won the 2009 chemistry Nobel Prize for his ribosome work, has died, the Washington Post reports.

In PLOS this week: mechanisms for genes implicated in coronary artery disease, rumen microbes and host genetics influence cow methane production, and more.