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.
Malaysia-based ScienceVision has agreed to commercialize and distribute the PierianDx Clinical Genomics Workspace platform in Southeast Asian countries.
Three vendors applied their variant calling and interpretation pipelines to the same tumor NGS panel data and came up with overlapping but different results.
Through their partnership, Genomenon and Veritas Genetics hope to develop a new literature prioritization engine to bring down the cost of WGS interpretation.
Detection of pathogenic or likely pathogenic variants implicated in cardiomyopathy declines in individuals with self-reported ancestry from under-studied populations.
The workgroup wanted to address the problem of variability in how bioinformatics pipelines are validated in order to improve the accuracy of NGS tests.
Bloomberg reports that Brainstorm Cell Therapeutics plans to offer a treatment it is developing under the "right to try" law for hundreds of thousands of dollars.
