variants of unknown significance

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. 

The clinicals labs contributing to the database are adding more case-level data and focusing on outlier interpretations.

A Baylor study compared 25 algorithms in terms of their ability to characterize missense variants and found significant disagreement in their predictions.

Attendees at the recent AMP meeting grappled with issues brought to light in a lawsuit regarding the alleged negligent misclassification of a patient's genetic variant.

Pages

York University researchers find genomic evidence of inbreeding in the yellow-banded bumblebee, according to Reuters.

In its survey of US adults, the Pew Research Center finds that views on the genetic engineering of animals depend on why it's done.

The Scientist reports agricultural researchers are working on a gene-stacking tool.

In Nature this week: statistical method for overcoming case-control imbalance issues, and more.