Investigators reported on efforts to help labs better implement guidelines and measure disease associations, and to create shared languages for variants across different databases.
Franklin, an AI-driven variant classification tool, is helping Sanford Imagenetics reduce variants of unknown significance in its new ACMG-59 genotyping test.
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.
Detection of pathogenic or likely pathogenic variants implicated in cardiomyopathy declines in individuals with self-reported ancestry from under-studied populations.
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.
In PLOS this week: mechanisms for genes implicated in coronary artery disease, rumen microbes and host genetics influence cow methane production, and more.
