variant classification

Canada's Gene42, maker of PhenoTips software, recently forged partnerships with CHOP, Genome Canada, and SeqOne in the fight against rare genetic diseases.

The tool, called Cerebro, significantly outperformed other publicly available methods, including in the less-trafficked areas of the genome that are now relevant for TMB immunotherapy prediction.

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

As part of an NIH SBIR grant, Genomenon is automating the curation of medical literature in its Mastermind variant interpretation software.

A new deep neural network approach used common variants in non-human primate genomes to distinguish between benign variants and those involved in human disease.

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.

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The New York Times and ProPublica look into the close relationship between a startup and Memorial Sloan Kettering Cancer Center.

Yahoo News reports millions of dollars are being transferred from NIH, CDC, and other programs to pay for the housing of detained undocumented immigrant children.

In Science this week: in vitro generation of human reproductive cells, and more.

Researchers gave a handful of octopuses MDMA to find that they too act more social on the drug, Gizmodo reports.