variant classification

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.

In Nucleic Acids Research this week: software tool to identify disease-causing mutations, web-based service for co-localization analyses, and more.

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.

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.

Sentieon will integrate its DNAseq and TNseq variant-calling technology into Qiagen's CLC Genomics Workbench and the Qiagen Clinical Insight platform.

The new, open-source GATK4 widens its coverage and compatibility with major cloud platforms while adding machine learning.

The workgroup wanted to address the problem of variability in how bioinformatics pipelines are validated in order to improve the accuracy of NGS tests.

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US Attorney General Jeff Sessions is considering using DNA tests to determine relatedness between adult and child migrants, the Daily Caller reports.

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.

In Nature this week: expansion of disease-resistance genes among long-lived oak trees, and more.

In a proof-of-concept study, researchers report being able to determine age from dried bloodstains, Discover's D-brief blog reports.